ClinVar Miner

List of variants in gene AKR1D1 reported as pathogenic for congenital bile acid synthesis defect

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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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
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter) rs749224036 0.00001
AKR1D1, 1-BP DEL, 511T
NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter) rs1236669456
NM_005989.4(AKR1D1):c.316C>T (p.Leu106Phe) rs121918343
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter) rs770247815

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