ClinVar Miner

List of variants in gene VIPAS39 reported as pathogenic for arthrogryposis, renal dysfunction, and cholestasis 2

Included ClinVar conditions (1):
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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter) rs778181495 0.00001
NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925 0.00001
NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter) rs1555364979
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.535C>T (p.Gln179Ter) rs267607173
NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)
NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171

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