ClinVar Miner

List of variants studied for congenital bile acid synthesis defect 2 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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.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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