ClinVar Miner

List of variants in gene VIPAS39 reported as uncertain significance for Arthrogryposis, renal dysfunction, and cholestasis 2

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001193315.2(VIPAS39):c.1363C>T (p.Arg455Trp) rs149168488 0.00020
NM_001193315.2(VIPAS39):c.184G>A (p.Glu62Lys) rs201075494 0.00019
NM_001193315.2(VIPAS39):c.469C>T (p.Pro157Ser) rs750765529 0.00007
NM_001193315.2(VIPAS39):c.836+4A>G rs201004985 0.00007
NM_001193315.2(VIPAS39):c.247G>A (p.Glu83Lys) rs753677499 0.00006
NM_001193315.2(VIPAS39):c.1393G>A (p.Ala465Thr) rs138274958 0.00005
NM_001193315.2(VIPAS39):c.940G>A (p.Gly314Arg) rs757963657 0.00005
NM_001193315.2(VIPAS39):c.167G>A (p.Arg56Gln) rs146723692 0.00004
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=) rs768593671 0.00003
NM_001193315.2(VIPAS39):c.493C>T (p.Arg165Trp) rs146741246 0.00003
NM_001193315.2(VIPAS39):c.93+9A>G rs202064596 0.00003
NM_001193315.2(VIPAS39):c.1213A>G (p.Ile405Val) rs141567561 0.00002
NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala) rs867268041 0.00001
NM_001193315.2(VIPAS39):c.128G>A (p.Arg43Gln) rs756648423 0.00001
NM_001193315.2(VIPAS39):c.485G>A (p.Arg162Gln) rs144078420 0.00001
NM_001193315.2(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384 0.00001
NM_001193315.2(VIPAS39):c.761C>T (p.Ala254Val) rs201678794 0.00001
NM_001193315.2(VIPAS39):c.1032C>G (p.His344Gln)
NM_001193315.2(VIPAS39):c.109C>T (p.Arg37Trp)
NM_001193315.2(VIPAS39):c.1124C>T (p.Ala375Val)
NM_001193315.2(VIPAS39):c.113C>T (p.Ala38Val)
NM_001193315.2(VIPAS39):c.1180-1G>C rs2503120985
NM_001193315.2(VIPAS39):c.1217G>C (p.Gly406Ala)
NM_001193315.2(VIPAS39):c.1225C>T (p.Arg409Trp)
NM_001193315.2(VIPAS39):c.1226G>A (p.Arg409Gln)
NM_001193315.2(VIPAS39):c.1226G>C (p.Arg409Pro) rs200598365
NM_001193315.2(VIPAS39):c.1258C>T (p.Pro420Ser)
NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn) rs2078466084
NM_001193315.2(VIPAS39):c.1382_1383inv (p.Gln461Leu)
NM_001193315.2(VIPAS39):c.1426GAG[2] (p.Glu478del) rs866847808
NM_001193315.2(VIPAS39):c.1468C>T (p.Arg490Ter)
NM_001193315.2(VIPAS39):c.146A>G (p.Asp49Gly)
NM_001193315.2(VIPAS39):c.1478A>G (p.Asn493Ser)
NM_001193315.2(VIPAS39):c.151G>A (p.Asp51Asn)
NM_001193315.2(VIPAS39):c.175T>C (p.Trp59Arg)
NM_001193315.2(VIPAS39):c.197G>A (p.Ser66Asn)
NM_001193315.2(VIPAS39):c.235G>T (p.Gly79Cys) rs752936456
NM_001193315.2(VIPAS39):c.239C>T (p.Ser80Leu)
NM_001193315.2(VIPAS39):c.241A>G (p.Thr81Ala)
NM_001193315.2(VIPAS39):c.373C>G (p.Leu125Val)
NM_001193315.2(VIPAS39):c.428G>A (p.Arg143Lys)
NM_001193315.2(VIPAS39):c.476A>T (p.Asp159Val)
NM_001193315.2(VIPAS39):c.479C>T (p.Thr160Ile) rs1555367578
NM_001193315.2(VIPAS39):c.47A>G (p.Lys16Arg)
NM_001193315.2(VIPAS39):c.501C>T (p.Gly167=)
NM_001193315.2(VIPAS39):c.505G>A (p.Val169Ile)
NM_001193315.2(VIPAS39):c.53A>G (p.Lys18Arg) rs745431826
NM_001193315.2(VIPAS39):c.585C>T (p.Asn195=)
NM_001193315.2(VIPAS39):c.586_588del (p.Val196del)
NM_001193315.2(VIPAS39):c.601C>A (p.Leu201Met)
NM_001193315.2(VIPAS39):c.626_627delinsAA (p.Ser209Lys)
NM_001193315.2(VIPAS39):c.659G>T (p.Arg220Leu) rs769057172
NM_001193315.2(VIPAS39):c.704G>C (p.Gly235Ala)
NM_001193315.2(VIPAS39):c.760G>T (p.Ala254Ser)
NM_001193315.2(VIPAS39):c.802G>A (p.Asp268Asn)
NM_001193315.2(VIPAS39):c.862G>A (p.Ala288Thr)
NM_001193315.2(VIPAS39):c.863C>T (p.Ala288Val)
NM_001193315.2(VIPAS39):c.904A>G (p.Ile302Val)
NM_001193315.2(VIPAS39):c.913-10T>A
NM_001193315.2(VIPAS39):c.922C>T (p.Arg308Cys)
NM_001193315.2(VIPAS39):c.926A>G (p.His309Arg)

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