ClinVar Miner

List of variants studied for Congenital bile acid synthesis defect by Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys) rs267606650 0.00004
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001

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