ClinVar Miner

List of variants reported as not provided for biliary tract disorder

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.625C>A (p.Pro209Thr) rs515726138 0.00001
NM_000214.3(JAG1):c.232T>C (p.Cys78Arg) rs1600196455
NM_000214.3(JAG1):c.232T>G (p.Cys78Gly) rs1600196455
NM_000214.3(JAG1):c.233G>A (p.Cys78Tyr) rs1555830957
NM_000214.3(JAG1):c.233G>C (p.Cys78Ser) rs1555830957
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.627+5G>T rs745696446

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