ClinVar Miner

List of variants in gene ATP8B1 reported as pathogenic for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
ATP8B1, 1.4-KB DEL
ATP8B1, 9-BP DEL, NT2384
NM_005603.6(ATP8B1):c.1367C>T (p.Thr456Met) rs121909104
NM_005603.6(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_005603.6(ATP8B1):c.1804C>T (p.Arg602Ter) rs121909105
NM_005603.6(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100
NM_005603.6(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137
NM_005603.6(ATP8B1):c.2097+2T>C rs387906381
NM_005603.6(ATP8B1):c.625C>A (p.Pro209Thr) rs515726138
NM_005603.6(ATP8B1):c.863T>C (p.Leu288Ser) rs121909099
NM_005603.6(ATP8B1):c.923G>T (p.Gly308Val) rs111033609

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