ClinVar Miner

List of variants in gene VIPAS39 studied for Arthrogryposis, renal dysfunction, and cholestasis 2

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.632-14T>C rs142501624 0.00164
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter) rs778181495 0.00001
NM_001193315.2(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384 0.00001
NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925 0.00001
NM_001193315.2(VIPAS39):c.-1+408G>C
NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala) rs867268041
NM_001193315.2(VIPAS39):c.1048-1G>T
NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter) rs1555364979
NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn) rs2078466084
NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer) rs2139895315
NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg) rs267607172
NM_001193315.2(VIPAS39):c.463_464del (p.Trp155fs)
NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter) rs267607173
NM_001193315.2(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243
NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171

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