Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 18394 single nucleotide variant NM_006445.3(PRPF8):c.6926A>G (p.His2309Arg) 121434236 MedGen:C1838702,OMIM:600059 17 1554178 1554178 T C 18394 single nucleotide variant NM_006445.3(PRPF8):c.6926A>G (p.His2309Arg) 121434236 MedGen:C1838702,OMIM:600059 17 1650884 1650884 T C 18395 single nucleotide variant NM_006445.3(PRPF8):c.6926A>C (p.His2309Pro) 121434236 MedGen:C1838702,OMIM:600059 17 1554178 1554178 T G 18395 single nucleotide variant NM_006445.3(PRPF8):c.6926A>C (p.His2309Pro) 121434236 MedGen:C1838702,OMIM:600059 17 1650884 1650884 T G 18396 single nucleotide variant NM_006445.3(PRPF8):c.6929G>A (p.Arg2310Lys) 121434238 MedGen:C1838702,OMIM:600059 17 1554175 1554175 C T 18396 single nucleotide variant NM_006445.3(PRPF8):c.6929G>A (p.Arg2310Lys) 121434238 MedGen:C1838702,OMIM:600059 17 1650881 1650881 C T 18397 single nucleotide variant NM_006445.3(PRPF8):c.6901C>A (p.Pro2301Thr) 121434239 MedGen:C1838702,OMIM:600059 17 1554203 1554203 G T 18397 single nucleotide variant NM_006445.3(PRPF8):c.6901C>A (p.Pro2301Thr) 121434239 MedGen:C1838702,OMIM:600059 17 1650909 1650909 G T 18398 single nucleotide variant NM_006445.3(PRPF8):c.6912C>G (p.Phe2304Leu) 121434240 MedGen:C1838702,OMIM:600059 17 1554192 1554192 G C 18398 single nucleotide variant NM_006445.3(PRPF8):c.6912C>G (p.Phe2304Leu) 121434240 MedGen:C1838702,OMIM:600059 17 1650898 1650898 G C 39623 single nucleotide variant NM_006445.3(PRPF8):c.6353C>T (p.Ser2118Phe) 387906971 MedGen:C1838702,OMIM:600059 17 1556852 1556852 G A 39623 single nucleotide variant NM_006445.3(PRPF8):c.6353C>T (p.Ser2118Phe) 387906971 MedGen:C1838702,OMIM:600059 17 1653558 1653558 G A 39624 single nucleotide variant PRPF8, ARG2310SER -1 MedGen:C1838702,OMIM:600059 na -1 -1 na na 177985 single nucleotide variant NM_006445.3(PRPF8):c.2235C>G (p.Ala745=) 727504109 MedGen:CN169374 17 1579952 1579952 G C 177985 single nucleotide variant NM_006445.3(PRPF8):c.2235C>G (p.Ala745=) 727504109 MedGen:CN169374 17 1676658 1676658 G C 177986 single nucleotide variant NM_006445.3(PRPF8):c.52C>T (p.Leu18=) 148531352 MedGen:CN169374 17 1587814 1587814 G A 177986 single nucleotide variant NM_006445.3(PRPF8):c.52C>T (p.Leu18=) 148531352 MedGen:CN169374 17 1684520 1684520 G A 193293 single nucleotide variant NM_006445.3(PRPF8):c.4467C>T (p.Leu1489=) 113849788 MedGen:CN239354;MedGen:CN169374 17 1564328 1564328 G A 193293 single nucleotide variant NM_006445.3(PRPF8):c.4467C>T (p.Leu1489=) 113849788 MedGen:CN239354;MedGen:CN169374 17 1661034 1661034 G A 193597 single nucleotide variant NM_006445.3(PRPF8):c.101-3C>T 75670228 MedGen:CN239354;MedGen:CN169374 17 1586998 1586998 G A 193597 single nucleotide variant NM_006445.3(PRPF8):c.101-3C>T 75670228 MedGen:CN239354;MedGen:CN169374 17 1683704 1683704 G A 193948 single nucleotide variant NM_006445.3(PRPF8):c.5001C>T (p.Arg1667=) 794727562 MedGen:CN169374 17 1562788 1562788 G A 193948 single nucleotide variant NM_006445.3(PRPF8):c.5001C>T (p.Arg1667=) 794727562 MedGen:CN169374 17 1659494 1659494 G A 194029 single nucleotide variant NM_006445.3(PRPF8):c.5352C>T (p.Asn1784=) 141456140 MedGen:CN239354;MedGen:CN169374 17 1561844 1561844 G A 194029 single nucleotide variant NM_006445.3(PRPF8):c.5352C>T (p.Asn1784=) 141456140 MedGen:CN239354;MedGen:CN169374 17 1658550 1658550 G A 194172 single nucleotide variant NM_006445.3(PRPF8):c.5943G>C (p.Val1981=) 758937794 MedGen:CN169374 17 1558688 1558688 C G 194172 single nucleotide variant NM_006445.3(PRPF8):c.5943G>C (p.Val1981=) 758937794 MedGen:CN169374 17 1655394 1655394 C G 194173 single nucleotide variant NM_006445.3(PRPF8):c.5794-3C>G 776617795 MedGen:CN169374 17 1558840 1558840 G C 194173 single nucleotide variant NM_006445.3(PRPF8):c.5794-3C>G 776617795 MedGen:CN169374 17 1655546 1655546 G C 194631 single nucleotide variant NM_006445.3(PRPF8):c.6792G>A (p.Ser2264=) 369391284 MedGen:CN239354;MedGen:CN169374 17 1554463 1554463 C T 194631 single nucleotide variant NM_006445.3(PRPF8):c.6792G>A (p.Ser2264=) 369391284 MedGen:CN239354;MedGen:CN169374 17 1651169 1651169 C T 223653 single nucleotide variant NM_006445.3(PRPF8):c.3527C>T (p.Ser1176Phe) 869025267 Human Phenotype Ontology:HP:0000659,MedGen:CN000620 17 1673487 1673487 G A 223653 single nucleotide variant NM_006445.3(PRPF8):c.3527C>T (p.Ser1176Phe) 869025267 Human Phenotype Ontology:HP:0000659,MedGen:CN000620 17 1576781 1576781 G A 238083 single nucleotide variant NM_006445.3(PRPF8):c.6470T>A (p.Val2157Glu) 878853388 MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 17 1554982 1554982 A T 238083 single nucleotide variant NM_006445.3(PRPF8):c.6470T>A (p.Val2157Glu) 878853388 MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 17 1651688 1651688 A T 238084 single nucleotide variant NM_006445.3(PRPF8):c.4131C>T (p.Ser1377=) 761899545 MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 17 1564976 1564976 G A 238084 single nucleotide variant NM_006445.3(PRPF8):c.4131C>T (p.Ser1377=) 761899545 MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 17 1661682 1661682 G A 238085 deletion NM_006445.3(PRPF8):c.3910_3914delAACTC (p.Asn1304Glnfs) 878853387 MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 17 1662014 1662018 GAGTT - 238085 deletion NM_006445.3(PRPF8):c.3910_3914delAACTC (p.Asn1304Glnfs) 878853387 MedGen:C0854723,Orphanet:ORPHA71862,SNOMED CT:C0854723 17 1565308 1565312 GAGTT - 266043 single nucleotide variant NM_006445.3(PRPF8):c.1666C>T (p.Leu556=) 139305061 MedGen:CN169374 17 1582109 1582109 G A 266043 single nucleotide variant NM_006445.3(PRPF8):c.1666C>T (p.Leu556=) 139305061 MedGen:CN169374 17 1678815 1678815 G A 266048 single nucleotide variant NM_006445.3(PRPF8):c.1929C>T (p.Gly643=) 140040625 MedGen:CN169374 17 1580914 1580914 G A 266048 single nucleotide variant NM_006445.3(PRPF8):c.1929C>T (p.Gly643=) 140040625 MedGen:CN169374 17 1677620 1677620 G A 270754 single nucleotide variant NM_006445.3(PRPF8):c.5506T>C (p.Leu1836=) 147958141 MedGen:CN239354;MedGen:CN169374 17 1560055 1560055 A G 270754 single nucleotide variant NM_006445.3(PRPF8):c.5506T>C (p.Leu1836=) 147958141 MedGen:CN239354;MedGen:CN169374 17 1656761 1656761 A G 327367 single nucleotide variant NM_006445.3(PRPF8):c.6801C>T (p.Phe2267=) 755962697 MedGen:CN239354 17 1651160 1651160 G A 327367 single nucleotide variant NM_006445.3(PRPF8):c.6801C>T (p.Phe2267=) 755962697 MedGen:CN239354 17 1554454 1554454 G A 327374 single nucleotide variant NM_006445.3(PRPF8):c.6783G>A (p.Met2261Ile) 886052611 MedGen:CN239354 17 1651178 1651178 C T 327374 single nucleotide variant NM_006445.3(PRPF8):c.6783G>A (p.Met2261Ile) 886052611 MedGen:CN239354 17 1554472 1554472 C T 327375 single nucleotide variant NM_006445.3(PRPF8):c.4639-13G>A 62088058 MedGen:CN239354 17 1660591 1660591 C T 327375 single nucleotide variant NM_006445.3(PRPF8):c.4639-13G>A 62088058 MedGen:CN239354 17 1563885 1563885 C T 327384 single nucleotide variant NM_006445.3(PRPF8):c.4022+15A>G 370376159 MedGen:CN239354 17 1661891 1661891 T C 327384 single nucleotide variant NM_006445.3(PRPF8):c.4022+15A>G 370376159 MedGen:CN239354 17 1565185 1565185 T C 327385 single nucleotide variant NM_006445.3(PRPF8):c.3061-11T>G 11652160 MedGen:CN239354 17 1674691 1674691 A C 327385 single nucleotide variant NM_006445.3(PRPF8):c.3061-11T>G 11652160 MedGen:CN239354 17 1577985 1577985 A C 327418 single nucleotide variant NM_006445.3(PRPF8):c.-30T>C 886052620 MedGen:CN239354 17 1588092 1588092 A G 327396 single nucleotide variant NM_006445.3(PRPF8):c.2873-13T>C 57276551 MedGen:CN239354 17 1675352 1675352 A G 327396 single nucleotide variant NM_006445.3(PRPF8):c.2873-13T>C 57276551 MedGen:CN239354 17 1578646 1578646 A G 327409 single nucleotide variant NM_006445.3(PRPF8):c.2680-9G>A 886052614 MedGen:CN239354 17 1675821 1675821 C T 327409 single nucleotide variant NM_006445.3(PRPF8):c.2680-9G>A 886052614 MedGen:CN239354 17 1579115 1579115 C T 327411 single nucleotide variant NM_006445.3(PRPF8):c.2601C>T (p.Ile867=) 117892584 MedGen:CN239354 17 1579300 1579300 G A 327411 single nucleotide variant NM_006445.3(PRPF8):c.2601C>T (p.Ile867=) 117892584 MedGen:CN239354 17 1676006 1676006 G A 327414 single nucleotide variant NM_006445.3(PRPF8):c.1869G>C (p.Lys623Asn) 200389505 MedGen:CN239354 17 1677680 1677680 C G 327414 single nucleotide variant NM_006445.3(PRPF8):c.1869G>C (p.Lys623Asn) 200389505 MedGen:CN239354 17 1580974 1580974 C G 327415 single nucleotide variant NM_006445.3(PRPF8):c.1263C>T (p.Ala421=) 886052615 MedGen:CN239354 17 1679635 1679635 G A 327415 single nucleotide variant NM_006445.3(PRPF8):c.1263C>T (p.Ala421=) 886052615 MedGen:CN239354 17 1582929 1582929 G A 327416 single nucleotide variant NM_006445.3(PRPF8):c.-15T>A 886052618 MedGen:CN239354 17 1684783 1684783 A T 327416 single nucleotide variant NM_006445.3(PRPF8):c.-15T>A 886052618 MedGen:CN239354 17 1588077 1588077 A T 327418 single nucleotide variant NM_006445.3(PRPF8):c.-30T>C 886052620 MedGen:CN239354 17 1684798 1684798 A G 337189 single nucleotide variant NM_006445.3(PRPF8):c.*2C>T 147941247 MedGen:CN239354 17 1650800 1650800 G A 337189 single nucleotide variant NM_006445.3(PRPF8):c.*2C>T 147941247 MedGen:CN239354 17 1554094 1554094 G A 337193 single nucleotide variant NM_006445.3(PRPF8):c.6227+8C>T 369076508 MedGen:CN239354 17 1653769 1653769 G A 337193 single nucleotide variant NM_006445.3(PRPF8):c.6227+8C>T 369076508 MedGen:CN239354 17 1557063 1557063 G A 337194 single nucleotide variant NM_006445.3(PRPF8):c.6078C>T (p.Ile2026=) 374672916 MedGen:CN239354 17 1653926 1653926 G A 337194 single nucleotide variant NM_006445.3(PRPF8):c.6078C>T (p.Ile2026=) 374672916 MedGen:CN239354 17 1557220 1557220 G A 337199 single nucleotide variant NM_006445.3(PRPF8):c.5022C>T (p.His1674=) 185936129 MedGen:CN239354 17 1659473 1659473 G A 337199 single nucleotide variant NM_006445.3(PRPF8):c.5022C>T (p.His1674=) 185936129 MedGen:CN239354 17 1562767 1562767 G A 337217 single nucleotide variant NM_006445.3(PRPF8):c.4947-5C>T 190909610 MedGen:CN239354 17 1659553 1659553 G A 337217 single nucleotide variant NM_006445.3(PRPF8):c.4947-5C>T 190909610 MedGen:CN239354 17 1562847 1562847 G A 337224 single nucleotide variant NM_006445.3(PRPF8):c.3774+6G>A 11078563 MedGen:CN239354 17 1576369 1576369 C T 337224 single nucleotide variant NM_006445.3(PRPF8):c.3774+6G>A 11078563 MedGen:CN239354 17 1673075 1673075 C T 337225 single nucleotide variant NM_006445.3(PRPF8):c.3729C>T (p.Arg1243=) 370510856 MedGen:CN239354 17 1576420 1576420 G A 337225 single nucleotide variant NM_006445.3(PRPF8):c.3729C>T (p.Arg1243=) 370510856 MedGen:CN239354 17 1673126 1673126 G A 337228 single nucleotide variant NM_006445.3(PRPF8):c.3657+9T>C 886052612 MedGen:CN239354 17 1576642 1576642 A G 337228 single nucleotide variant NM_006445.3(PRPF8):c.3657+9T>C 886052612 MedGen:CN239354 17 1673348 1673348 A G 337230 single nucleotide variant NM_006445.3(PRPF8):c.2493C>G (p.Ser831=) 146749363 MedGen:CN239354 17 1676266 1676266 G C 337230 single nucleotide variant NM_006445.3(PRPF8):c.2493C>G (p.Ser831=) 146749363 MedGen:CN239354 17 1579560 1579560 G C 337233 single nucleotide variant NM_006445.3(PRPF8):c.2409G>A (p.Ala803=) 114284408 MedGen:CN239354 17 1676350 1676350 C T 337233 single nucleotide variant NM_006445.3(PRPF8):c.2409G>A (p.Ala803=) 114284408 MedGen:CN239354 17 1579644 1579644 C T 337234 single nucleotide variant NM_006445.3(PRPF8):c.1855-13C>T 16951135 MedGen:CN239354 17 1677707 1677707 G A 337234 single nucleotide variant NM_006445.3(PRPF8):c.1855-13C>T 16951135 MedGen:CN239354 17 1581001 1581001 G A 337244 single nucleotide variant NM_006445.3(PRPF8):c.1401A>G (p.Gln467=) 751438136 MedGen:CN239354 17 1679299 1679299 T C 337244 single nucleotide variant NM_006445.3(PRPF8):c.1401A>G (p.Gln467=) 751438136 MedGen:CN239354 17 1582593 1582593 T C 337254 single nucleotide variant NM_006445.3(PRPF8):c.1253C>G (p.Thr418Ser) 142411659 MedGen:CN239354 17 1679645 1679645 G C 337254 single nucleotide variant NM_006445.3(PRPF8):c.1253C>G (p.Thr418Ser) 142411659 MedGen:CN239354 17 1582939 1582939 G C 337257 single nucleotide variant NM_006445.3(PRPF8):c.993-7A>G 62089988 MedGen:CN239354 17 1680838 1680838 T C 337257 single nucleotide variant NM_006445.3(PRPF8):c.993-7A>G 62089988 MedGen:CN239354 17 1584132 1584132 T C 337259 single nucleotide variant NM_006445.3(PRPF8):c.645C>T (p.Asp215=) 758699232 MedGen:CN239354 17 1681828 1681828 G A 337259 single nucleotide variant NM_006445.3(PRPF8):c.645C>T (p.Asp215=) 758699232 MedGen:CN239354 17 1585122 1585122 G A 337281 single nucleotide variant NM_006445.3(PRPF8):c.435-6T>G 75026252 MedGen:CN239354 17 1682044 1682044 A C 337281 single nucleotide variant NM_006445.3(PRPF8):c.435-6T>G 75026252 MedGen:CN239354 17 1585338 1585338 A C 337282 single nucleotide variant NM_006445.3(PRPF8):c.360C>T (p.Tyr120=) 764798990 MedGen:CN239354 17 1682203 1682203 G A 337282 single nucleotide variant NM_006445.3(PRPF8):c.360C>T (p.Tyr120=) 764798990 MedGen:CN239354 17 1585497 1585497 G A 337285 single nucleotide variant NM_006445.3(PRPF8):c.-34C>T 886052621 MedGen:CN239354 17 1684802 1684802 G A 337285 single nucleotide variant NM_006445.3(PRPF8):c.-34C>T 886052621 MedGen:CN239354 17 1588096 1588096 G A 343448 single nucleotide variant NM_006445.3(PRPF8):c.6294G>A (p.Lys2098=) 11559309 MedGen:CN239354 17 1653617 1653617 C T 343448 single nucleotide variant NM_006445.3(PRPF8):c.6294G>A (p.Lys2098=) 11559309 MedGen:CN239354 17 1556911 1556911 C T 343444 single nucleotide variant NM_006445.3(PRPF8):c.*11G>T 767915818 MedGen:CN239354 17 1650791 1650791 C A 343444 single nucleotide variant NM_006445.3(PRPF8):c.*11G>T 767915818 MedGen:CN239354 17 1554085 1554085 C A 343449 single nucleotide variant NM_006445.3(PRPF8):c.6247C>T (p.Leu2083=) 34341522 MedGen:CN239354 17 1653664 1653664 G A 343449 single nucleotide variant NM_006445.3(PRPF8):c.6247C>T (p.Leu2083=) 34341522 MedGen:CN239354 17 1556958 1556958 G A 343456 single nucleotide variant NM_006445.3(PRPF8):c.5412C>T (p.Asn1804=) 151214963 MedGen:CN239354 17 1658346 1658346 G A 343456 single nucleotide variant NM_006445.3(PRPF8):c.5412C>T (p.Asn1804=) 151214963 MedGen:CN239354 17 1561640 1561640 G A 343459 single nucleotide variant NM_006445.3(PRPF8):c.4707G>A (p.Leu1569=) 143237388 MedGen:CN239354 17 1660510 1660510 C T 343459 single nucleotide variant NM_006445.3(PRPF8):c.4707G>A (p.Leu1569=) 143237388 MedGen:CN239354 17 1563804 1563804 C T 343460 single nucleotide variant NM_006445.3(PRPF8):c.4011A>G (p.Gln1337=) 118000367 MedGen:CN239354 17 1661917 1661917 T C 343460 single nucleotide variant NM_006445.3(PRPF8):c.4011A>G (p.Gln1337=) 118000367 MedGen:CN239354 17 1565211 1565211 T C 343463 single nucleotide variant NM_006445.3(PRPF8):c.3939G>A (p.Pro1313=) 35169383 MedGen:CN239354 17 1661989 1661989 C T 343463 single nucleotide variant NM_006445.3(PRPF8):c.3939G>A (p.Pro1313=) 35169383 MedGen:CN239354 17 1565283 1565283 C T 343466 single nucleotide variant NM_006445.3(PRPF8):c.3775-14T>C 3814969 MedGen:CN239354 17 1565461 1565461 A G 343466 single nucleotide variant NM_006445.3(PRPF8):c.3775-14T>C 3814969 MedGen:CN239354 17 1662167 1662167 A G 343471 single nucleotide variant NM_006445.3(PRPF8):c.3657+13C>T 141542320 MedGen:CN239354 17 1576638 1576638 G A 343471 single nucleotide variant NM_006445.3(PRPF8):c.3657+13C>T 141542320 MedGen:CN239354 17 1673344 1673344 G A 343472 single nucleotide variant NM_006445.3(PRPF8):c.3154G>T (p.Val1052Leu) 886052613 MedGen:CN239354 17 1577881 1577881 C A 343472 single nucleotide variant NM_006445.3(PRPF8):c.3154G>T (p.Val1052Leu) 886052613 MedGen:CN239354 17 1674587 1674587 C A 343473 single nucleotide variant NM_006445.3(PRPF8):c.2847G>A (p.Pro949=) 33965342 MedGen:CN239354 17 1675645 1675645 C T 343473 single nucleotide variant NM_006445.3(PRPF8):c.2847G>A (p.Pro949=) 33965342 MedGen:CN239354 17 1578939 1578939 C T 343474 single nucleotide variant NM_006445.3(PRPF8):c.2790C>T (p.Ala930=) 779910932 MedGen:CN239354 17 1675702 1675702 G A 343474 single nucleotide variant NM_006445.3(PRPF8):c.2790C>T (p.Ala930=) 779910932 MedGen:CN239354 17 1578996 1578996 G A 343488 single nucleotide variant NM_006445.3(PRPF8):c.2631G>A (p.Ala877=) 35420265 MedGen:CN239354 17 1675976 1675976 C T 343488 single nucleotide variant NM_006445.3(PRPF8):c.2631G>A (p.Ala877=) 35420265 MedGen:CN239354 17 1579270 1579270 C T 343491 duplication NM_006445.3(PRPF8):c.2182-3dupT 779420760 MedGen:CN239354 17 1676714 1676714 A AA 343491 duplication NM_006445.3(PRPF8):c.2182-3dupT 779420760 MedGen:CN239354 17 1580008 1580008 A AA 343496 single nucleotide variant NM_006445.3(PRPF8):c.1914C>G (p.Leu638=) 11078565 MedGen:CN239354 17 1677635 1677635 G C 343496 single nucleotide variant NM_006445.3(PRPF8):c.1914C>G (p.Leu638=) 11078565 MedGen:CN239354 17 1580929 1580929 G C 343498 single nucleotide variant NM_006445.3(PRPF8):c.1290-10A>G 73291009 MedGen:CN239354 17 1679420 1679420 T C 343498 single nucleotide variant NM_006445.3(PRPF8):c.1290-10A>G 73291009 MedGen:CN239354 17 1582714 1582714 T C 343504 single nucleotide variant NM_006445.3(PRPF8):c.1289+13C>T 199729224 MedGen:CN239354 17 1679596 1679596 G A 343504 single nucleotide variant NM_006445.3(PRPF8):c.1289+13C>T 199729224 MedGen:CN239354 17 1582890 1582890 G A 343505 single nucleotide variant NM_006445.3(PRPF8):c.891T>C (p.Asn297=) 7503397 MedGen:CN239354 17 1681030 1681030 A G 343505 single nucleotide variant NM_006445.3(PRPF8):c.891T>C (p.Asn297=) 7503397 MedGen:CN239354 17 1584324 1584324 A G 343509 single nucleotide variant NM_006445.3(PRPF8):c.637T>C (p.Leu213=) 11559305 MedGen:CN239354 17 1681836 1681836 A G 343509 single nucleotide variant NM_006445.3(PRPF8):c.637T>C (p.Leu213=) 11559305 MedGen:CN239354 17 1585130 1585130 A G 343514 single nucleotide variant NM_006445.3(PRPF8):c.-22G>C 185356676 MedGen:CN239354 17 1684790 1684790 C G 343514 single nucleotide variant NM_006445.3(PRPF8):c.-22G>C 185356676 MedGen:CN239354 17 1588084 1588084 C G 343515 single nucleotide variant NM_006445.3(PRPF8):c.-24G>A 886052619 MedGen:CN239354 17 1684792 1684792 C T 343515 single nucleotide variant NM_006445.3(PRPF8):c.-24G>A 886052619 MedGen:CN239354 17 1588086 1588086 C T 343516 single nucleotide variant NM_006445.3(PRPF8):c.-43G>C 575056329 MedGen:CN239354 17 1684811 1684811 C G 343516 single nucleotide variant NM_006445.3(PRPF8):c.-43G>C 575056329 MedGen:CN239354 17 1588105 1588105 C G 343518 single nucleotide variant NM_006445.3(PRPF8):c.-74C>T 886052623 MedGen:CN239354 17 1684842 1684842 G A 343518 single nucleotide variant NM_006445.3(PRPF8):c.-74C>T 886052623 MedGen:CN239354 17 1588136 1588136 G A 345039 single nucleotide variant NM_006445.3(PRPF8):c.*36C>T 776962939 MedGen:CN239354 17 1650766 1650766 G A 345039 single nucleotide variant NM_006445.3(PRPF8):c.*36C>T 776962939 MedGen:CN239354 17 1554060 1554060 G A 345040 single nucleotide variant NM_006445.3(PRPF8):c.6854-4G>A 75996323 MedGen:CN239354 17 1650960 1650960 C T 345040 single nucleotide variant NM_006445.3(PRPF8):c.6854-4G>A 75996323 MedGen:CN239354 17 1554254 1554254 C T 345041 single nucleotide variant NM_006445.3(PRPF8):c.6834G>A (p.Ser2278=) 147050234 MedGen:CN239354 17 1651127 1651127 C T 345041 single nucleotide variant NM_006445.3(PRPF8):c.6834G>A (p.Ser2278=) 147050234 MedGen:CN239354 17 1554421 1554421 C T 345042 single nucleotide variant NM_006445.3(PRPF8):c.6588T>C (p.His2196=) 1802491 MedGen:CN239354 17 1651476 1651476 A G 345042 single nucleotide variant NM_006445.3(PRPF8):c.6588T>C (p.His2196=) 1802491 MedGen:CN239354 17 1554770 1554770 A G 345046 single nucleotide variant NM_006445.3(PRPF8):c.5469C>T (p.His1823=) 115404141 MedGen:CN239354 17 1658289 1658289 G A 345046 single nucleotide variant NM_006445.3(PRPF8):c.5469C>T (p.His1823=) 115404141 MedGen:CN239354 17 1561583 1561583 G A 345047 single nucleotide variant NM_006445.3(PRPF8):c.3299+14T>C 16951071 MedGen:CN239354 17 1577722 1577722 A G 345047 single nucleotide variant NM_006445.3(PRPF8):c.3299+14T>C 16951071 MedGen:CN239354 17 1674428 1674428 A G 345050 single nucleotide variant NM_006445.3(PRPF8):c.3009C>T (p.His1003=) 149785500 MedGen:CN239354 17 1675203 1675203 G A 345050 single nucleotide variant NM_006445.3(PRPF8):c.3009C>T (p.His1003=) 149785500 MedGen:CN239354 17 1578497 1578497 G A 345051 single nucleotide variant NM_006445.3(PRPF8):c.534T>C (p.Tyr178=) 886052616 MedGen:CN239354 17 1681939 1681939 A G 345051 single nucleotide variant NM_006445.3(PRPF8):c.534T>C (p.Tyr178=) 886052616 MedGen:CN239354 17 1585233 1585233 A G 345052 single nucleotide variant NM_006445.3(PRPF8):c.283A>G (p.Met95Val) 373157040 MedGen:CN239354 17 1682280 1682280 T C 345052 single nucleotide variant NM_006445.3(PRPF8):c.283A>G (p.Met95Val) 373157040 MedGen:CN239354 17 1585574 1585574 T C 345055 single nucleotide variant NM_006445.3(PRPF8):c.-4G>T 886052617 MedGen:CN239354 17 1684575 1684575 C A 345055 single nucleotide variant NM_006445.3(PRPF8):c.-4G>T 886052617 MedGen:CN239354 17 1587869 1587869 C A 345057 single nucleotide variant NM_006445.3(PRPF8):c.-62G>T 886052622 MedGen:CN239354 17 1684830 1684830 C A 345057 single nucleotide variant NM_006445.3(PRPF8):c.-62G>T 886052622 MedGen:CN239354 17 1588124 1588124 C A 345059 single nucleotide variant NM_006445.3(PRPF8):c.-76A>G 765014520 MedGen:CN239354 17 1684844 1684844 T C 345059 single nucleotide variant NM_006445.3(PRPF8):c.-76A>G 765014520 MedGen:CN239354 17 1588138 1588138 T C 345065 single nucleotide variant NM_006445.3(PRPF8):c.-79C>T 74635192 MedGen:CN239354 17 1684847 1684847 G A 345065 single nucleotide variant NM_006445.3(PRPF8):c.-79C>T 74635192 MedGen:CN239354 17 1588141 1588141 G A 361007 single nucleotide variant NM_006445.3(PRPF8):c.926G>A (p.Arg309His) 775023296 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 17 1680995 1680995 C T 361007 single nucleotide variant NM_006445.3(PRPF8):c.926G>A (p.Arg309His) 775023296 MedGen:C0035334,OMIM:268000,Orphanet:ORPHA791,SNOMED CT:C0035334 17 1584289 1584289 C T

Disease associated variation - GWASdb Chr Pos SNP ID(dbSNP 142) Ref Alt Ori SNP ID P-value Drug Name Drug Anno GWAS Trait HPO ID DO ID AA Type Trait or Drug 17 1560525 rs28620466 G A rs28620466 2.33E-04 GEMCITABINE|CYTARABINE MANNOSYLTRANSFERASES|PIGB PROTEIN, HUMAN|RNA, SMALL INTERFERING|DEOXYCYTIDINE Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 G intron GWASdb_drug 17 1560525 rs28620466 G A rs28620466 2.33E-04 Response to cytadine analogues (cytosine arabinoside) HPOID:0002664 DOID:162 G intron GWASdb_trait

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000174231.16 PRPF8 607300