ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_002858.4(ABCD3):c.1846-31C>G rs3118109 0.98643
NM_003500.4(ACOX2):c.-26T>C rs4681862 0.85007
NM_005989.4(AKR1D1):c.*5A>C rs1872929 0.81870
NM_005989.4(AKR1D1):c.*507G>A rs7780066 0.80479
NM_005989.4(AKR1D1):c.*36C>T rs1872930 0.80337
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008 0.75062
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939 0.73966
NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala) rs9938550 0.52796
NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=) rs2305880 0.52781
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_004820.5(CYP7B1):c.122+19A>T rs7842714 0.39118
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
NM_002858.4(ABCD3):c.162G>A (p.Lys54=) rs16946 0.35872
NM_005989.4(AKR1D1):c.*1163T>C rs11763063 0.25784
NM_014324.6(AMACR):c.*663G>A rs15612 0.21767
NM_005989.4(AKR1D1):c.*362A>C rs3735023 0.17831
NM_005989.4(AKR1D1):c.*1417C>T rs17169522 0.13508
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_014324.6(AMACR):c.247+20G>A rs9282595 0.09385
NM_005989.4(AKR1D1):c.*1274A>G rs11766258 0.08627
NM_014324.6(AMACR):c.*227T>G rs6863560 0.08265
NM_005989.4(AKR1D1):c.*1484T>C rs17169523 0.05069
NM_005989.4(AKR1D1):c.856-10G>A rs17169518 0.04717
NM_005989.4(AKR1D1):c.*1265A>G rs113105583 0.04114
NM_014324.6(AMACR):c.*617G>T rs12659370 0.04114
NM_005989.4(AKR1D1):c.*1095T>C rs61290940 0.04068
NM_005989.4(AKR1D1):c.*1311A>C rs188138947 0.03571
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln) rs16892150 0.03193
NM_005989.4(AKR1D1):c.*1082G>C rs58526603 0.02658
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594 0.02606
NM_005989.4(AKR1D1):c.*879T>C rs73729460 0.01943
NM_005989.4(AKR1D1):c.*1363A>G rs2465921 0.01751
NM_005989.4(AKR1D1):c.477C>T (p.Asp159=) rs34703687 0.01506
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_014324.6(AMACR):c.*1727G>T rs116333833 0.00932
NM_005989.4(AKR1D1):c.*1085C>T rs12540339 0.00863
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_002858.4(ABCD3):c.155G>T (p.Gly52Val) rs142075958 0.00530
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_014324.6(AMACR):c.*1852C>T rs563065271 0.00137
NM_005989.4(AKR1D1):c.*48C>T rs201088819 0.00069
NM_014324.6(AMACR):c.392-16G>C rs756124583 0.00036
NM_014324.6(AMACR):c.438G>A (p.Pro146=) rs140523570 0.00013
NM_014324.6(AMACR):c.248-18C>T rs534775074 0.00002
NM_003500.4(ACOX2):c.161-57C>G rs7611026
NM_005989.4(AKR1D1):c.*1139G>C rs566511122
NM_005989.4(AKR1D1):c.*1153C>G rs112833888
NM_014324.6(AMACR):c.391+16del

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