ClinVar Miner

List of variants reported as pathogenic for Congenital bile acid synthesis defect 2 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys) rs267606650 0.00004
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg) rs267606649 0.00002
AKR1D1, 1-BP DEL, 511T
NM_005989.4(AKR1D1):c.316C>T (p.Leu106Phe) rs121918343

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