ClinVar Miner

List of variants reported as likely pathogenic by Uitto Lab,Thomas Jefferson University

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Total variants: 25
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HGVS dbSNP
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135
NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser) rs1202280089
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.856C>T (p.Arg286Trp) rs773777400
NM_000359.3(TGM1):c.862T>C (p.Trp288Arg) rs1247223599
NM_001139.3(ALOX12B):c.1325G>T (p.Arg442Leu) rs1028050037
NM_001139.3(ALOX12B):c.1697A>G (p.Tyr566Cys) rs1567980596
NM_001139.3(ALOX12B):c.338T>C (p.Leu113Pro) rs1567985231
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001165960.1(ALOXE3):c.1604A>G (p.His535Arg) rs1296095311
NM_001165960.1(ALOXE3):c.2461C>T (p.Arg821Trp) rs1311967606
NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg) rs764593071
NM_148897.3(SDR9C7):c.355G>A (p.Glu119Lys) rs538068583
NM_173076.3(ABCA12):c.3446T>C (p.Leu1149Pro) rs1559134341
NM_173076.3(ABCA12):c.7247C>T (p.Pro2416Leu) rs764355087
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) rs771593783
NM_173076.3(ABCA12):c.7277G>A (p.Arg2426Gln) rs761068277
NM_173483.4(CYP4F22):c.1219C>T (p.Arg407Cys) rs745942843
NM_173483.4(CYP4F22):c.236A>G (p.Glu79Gly) rs1449980834
NM_173676.2(PNPLA1):c.-80-20712C>A rs533584507
NM_173676.2(PNPLA1):c.-80-20805C>G rs1373230987
NM_173676.2(PNPLA1):c.329C>T (p.Pro110Leu) rs766215523
NM_173676.2(PNPLA1):c.452G>C (p.Arg151Pro) rs746575171
NM_177973.2(SULT2B1):c.232G>A (p.Glu78Lys) rs140526640
NM_177973.2(SULT2B1):c.298C>T (p.Arg100Trp) rs1303127476

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