ClinVar Miner

List of variants reported as likely benign for benign recurrent intrahepatic cholestasis type 1

Included ClinVar conditions (3):

Benign recurrent intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 1; Benign recurrent intrahepatic cholestasis type 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)	rs146599962	0.00657
NM_001374385.1(ATP8B1):c.2931+14G>A	rs34451179	0.00101
NM_001374385.1(ATP8B1):c.2722G>A (p.Val908Ile)	rs200648620	0.00003

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