ClinVar Miner

List of variants in gene combination ATP8B1, LOC100505549 reported as likely pathogenic for Cholestasis, progressive familial intrahepatic 1; Cholestasis of pregnancy

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Total variants: 1
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HGVS dbSNP
NM_001374385.1(ATP8B1):c.2251G>T (p.Glu751Ter) rs1057524081

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