Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 45764 single nucleotide variant NM_006070.5(TFG):c.854C>T (p.Pro285Leu) 207482230 Gene:50989,MedGen:C1858338,OMIM:604484,Orphanet:ORPHA90117;MedGen:CN221809 3 100467026 100467026 C T 45764 single nucleotide variant NM_006070.5(TFG):c.854C>T (p.Pro285Leu) 207482230 Gene:50989,MedGen:C1858338,OMIM:604484,Orphanet:ORPHA90117;MedGen:CN221809 3 100748182 100748182 C T 106771 single nucleotide variant NM_001007565.2(TFG):c.316C>T (p.Arg106Cys) 587777175 MedGen:C3714897,OMIM:615658,Orphanet:ORPHA431329 3 100447603 100447603 C T 106771 single nucleotide variant NM_001007565.2(TFG):c.316C>T (p.Arg106Cys) 587777175 MedGen:C3714897,OMIM:615658,Orphanet:ORPHA431329 3 100728759 100728759 C T 166216 single nucleotide variant NM_001007565.2(TFG):c.806G>T (p.Gly269Val) 587777789 Gene:50989,MedGen:C1858338,OMIM:604484,Orphanet:ORPHA90117 3 100744917 100744917 G T 166216 single nucleotide variant NM_001007565.2(TFG):c.806G>T (p.Gly269Val) 587777789 Gene:50989,MedGen:C1858338,OMIM:604484,Orphanet:ORPHA90117 3 100463761 100463761 G T 231596 single nucleotide variant NM_006070.5(TFG):c.1006C>T (p.Pro336Ser) 371681149 MedGen:CN169374 3 100467178 100467178 C T 231596 single nucleotide variant NM_006070.5(TFG):c.1006C>T (p.Pro336Ser) 371681149 MedGen:CN169374 3 100748334 100748334 C T 244402 single nucleotide variant NM_006070.5(TFG):c.1060C>G (p.Pro354Ala) 111356679 MedGen:CN169374 3 100467232 100467232 C G 244402 single nucleotide variant NM_006070.5(TFG):c.1060C>G (p.Pro354Ala) 111356679 MedGen:CN169374 3 100748388 100748388 C G 244403 single nucleotide variant NM_006070.5(TFG):c.1169A>G (p.Gln390Arg) 759196593 MedGen:CN169374 3 100467341 100467341 A G 244403 single nucleotide variant NM_006070.5(TFG):c.1169A>G (p.Gln390Arg) 759196593 MedGen:CN169374 3 100748497 100748497 A G

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000114354.13 TFG 602498