ClinVar Miner

List of variants reported as pathogenic for cholestasis, intrahepatic, of pregnancy, 1

Included ClinVar conditions (3):

Cholestasis, intrahepatic, of pregnancy, 1
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1
Progressive familial intrahepatic cholestasis type 1; Cholestasis, intrahepatic, of pregnancy, 1; Benign recurrent intrahepatic cholestasis type 1

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)	rs34719006	0.00245
NM_001374385.1(ATP8B1):c.2599C>T (p.Arg867Cys)	rs121909103

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