ClinVar Miner

List of variants reported as pathogenic for Congenital bile acid synthesis defect 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val)	rs567335712	0.00008
NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys)	rs267606650	0.00004
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)	rs182820353	0.00004

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