ClinVar Miner

List of variants studied for benign recurrent intrahepatic cholestasis type 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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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.2932-3C>A rs1057523495 0.00001
NM_001374385.1(ATP8B1):c.2384_2392del (p.Gly795_Arg797del) rs2122653939

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