ClinVar Miner

List of variants in gene VIPAS39 studied for autosomal ichthyosis syndrome

Included ClinVar conditions (42):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)
NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)
NM_022067.4(VIPAS39):c.1179+1G>A rs1594895847
NM_022067.4(VIPAS39):c.1184G>A (p.Trp395Ter) rs1555364979
NM_022067.4(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157
NM_022067.4(VIPAS39):c.20del (p.Asp7fs) rs1594929571
NM_022067.4(VIPAS39):c.2T>G (p.Met1Arg) rs267607172
NM_022067.4(VIPAS39):c.494G>A (p.Arg165Gln) rs376797384
NM_022067.4(VIPAS39):c.535C>T (p.Gln179Ter) rs267607173
NM_022067.4(VIPAS39):c.618_626dup (p.Arg206_Leu208dup) rs1594910243
NM_022067.4(VIPAS39):c.658C>T (p.Arg220Ter) rs200370925
NM_022067.4(VIPAS39):c.677A>G (p.His226Arg) rs1555366438
NM_022067.4(VIPAS39):c.749_753del (p.Thr250fs) rs794726653
NM_022067.4(VIPAS39):c.871C>T (p.Gln291Ter) rs267607171

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