ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_004820.5(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274 0.00051
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter) rs200737038 0.00007
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_003500.4(ACOX2):c.323+2T>C rs751041263 0.00001
NM_004820.5(CYP7B1):c.1162C>T (p.Arg388Ter) rs72554620 0.00001
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter) rs749224036 0.00001
NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys) rs104894518 0.00001
NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs) rs786200876 0.00001
AKR1D1, 1-BP DEL, 511T
NM_002858.4(ABCD3):c.1903-573_*1108del
NM_003500.4(ACOX2):c.207T>A (p.Tyr69Ter) rs1057519329
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs) rs34391522
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
NM_014324.6(AMACR):c.320T>C (p.Leu107Pro) rs121917816
NM_025193.4(HSD3B7):c.1039_1040del (p.Leu347fs) rs397514442
NM_025193.4(HSD3B7):c.294dup (p.Lys99fs) rs397514443
NM_025193.4(HSD3B7):c.322+1G>T rs387906288
NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter) rs560826820

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