Disease associated variation - ClinVar |
Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
16860 | single nucleotide variant | NM_016302.3(CRBN):c.1255C>T (p.Arg419Ter) | 121918368 | MedGen:C1843942,OMIM:607417 | 3 | 3192623 | 3192623 | G | A |
16860 | single nucleotide variant | NM_016302.3(CRBN):c.1255C>T (p.Arg419Ter) | 121918368 | MedGen:C1843942,OMIM:607417 | 3 | 3150939 | 3150939 | G | A |
134302 | single nucleotide variant | NM_016302.3(CRBN):c.175-5T>A | 151039737 | MedGen:CN169374 | 3 | 3174266 | 3174266 | A | T |
134302 | single nucleotide variant | NM_016302.3(CRBN):c.175-5T>A | 151039737 | MedGen:CN169374 | 3 | 3215950 | 3215950 | A | T |
134303 | single nucleotide variant | NM_016302.3(CRBN):c.175-9T>C | 1669321 | MedGen:CN169374 | 3 | 3174270 | 3174270 | A | G |
134303 | single nucleotide variant | NM_016302.3(CRBN):c.175-9T>C | 1669321 | MedGen:CN169374 | 3 | 3215954 | 3215954 | A | G |
134304 | single nucleotide variant | NM_016302.3(CRBN):c.219C>T (p.His73=) | 1045309 | MedGen:CN169374 | 3 | 3174217 | 3174217 | G | A |
134304 | single nucleotide variant | NM_016302.3(CRBN):c.219C>T (p.His73=) | 1045309 | MedGen:CN169374 | 3 | 3215901 | 3215901 | G | A |
134305 | single nucleotide variant | NM_016302.3(CRBN):c.735T>C (p.Tyr245=) | 17027638 | MedGen:CN169374 | 3 | 3156234 | 3156234 | A | G |
134305 | single nucleotide variant | NM_016302.3(CRBN):c.735T>C (p.Tyr245=) | 17027638 | MedGen:CN169374 | 3 | 3197918 | 3197918 | A | G |
205733 | single nucleotide variant | NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) | 797045036 | MedGen:C1843942,OMIM:607417 | 3 | 3192707 | 3192707 | A | G |
205733 | single nucleotide variant | NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) | 797045036 | MedGen:C1843942,OMIM:607417 | 3 | 3151023 | 3151023 | A | G |
207065 | single nucleotide variant | NM_016302.3(CRBN):c.1274C>T (p.Thr425Met) | 566932471 | MedGen:CN169374 | 3 | 3192604 | 3192604 | G | A |
207065 | single nucleotide variant | NM_016302.3(CRBN):c.1274C>T (p.Thr425Met) | 566932471 | MedGen:CN169374 | 3 | 3150920 | 3150920 | G | A |
207066 | single nucleotide variant | NM_016302.3(CRBN):c.937G>C (p.Asp313His) | 142337178 | MedGen:CN169374 | 3 | 3153974 | 3153974 | C | G |
207066 | single nucleotide variant | NM_016302.3(CRBN):c.937G>C (p.Asp313His) | 142337178 | MedGen:CN169374 | 3 | 3195658 | 3195658 | C | G |
207067 | single nucleotide variant | NM_016302.3(CRBN):c.654A>G (p.Gln218=) | 373145132 | MedGen:CN169374 | 3 | 3209351 | 3209351 | T | C |
207067 | single nucleotide variant | NM_016302.3(CRBN):c.654A>G (p.Gln218=) | 373145132 | MedGen:CN169374 | 3 | 3167667 | 3167667 | T | C |
207068 | single nucleotide variant | NM_016302.3(CRBN):c.377+13A>C | 115124101 | MedGen:CN169374 | 3 | 3215730 | 3215730 | T | G |
207068 | single nucleotide variant | NM_016302.3(CRBN):c.377+13A>C | 115124101 | MedGen:CN169374 | 3 | 3174046 | 3174046 | T | G |
207069 | single nucleotide variant | NM_016302.3(CRBN):c.286A>G (p.Thr96Ala) | 797045481 | MedGen:CN169374 | 3 | 3215834 | 3215834 | T | C |
207069 | single nucleotide variant | NM_016302.3(CRBN):c.286A>G (p.Thr96Ala) | 797045481 | MedGen:CN169374 | 3 | 3174150 | 3174150 | T | C |
207070 | single nucleotide variant | NM_016302.3(CRBN):c.88G>A (p.Glu30Lys) | 78564552 | MedGen:CN221809;MedGen:CN169374 | 3 | 3175249 | 3175249 | C | T |
207070 | single nucleotide variant | NM_016302.3(CRBN):c.88G>A (p.Glu30Lys) | 78564552 | MedGen:CN221809;MedGen:CN169374 | 3 | 3216933 | 3216933 | C | T |
207071 | single nucleotide variant | NM_016302.3(CRBN):c.34C>T (p.His12Tyr) | 797045482 | MedGen:CN169374 | 3 | 3179654 | 3179654 | G | A |
207071 | single nucleotide variant | NM_016302.3(CRBN):c.34C>T (p.His12Tyr) | 797045482 | MedGen:CN169374 | 3 | 3221338 | 3221338 | G | A |