ClinVar Miner

List of variants studied for Cholestasis, benign recurrent intrahepatic 1

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Total variants: 7
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HGVS dbSNP
ATP8B1, 9-BP DEL, NT2384
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln) rs144656719
NM_001374385.1(ATP8B1):c.2932-3C>A rs1057523495
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr) rs946672182

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