ClinVar Miner

List of variants reported as uncertain significance for congenital bile acid synthesis defect 2

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_005989.4(AKR1D1):c.*537T>C rs117215714 0.00362
NM_005989.4(AKR1D1):c.*1093C>G rs12540340 0.00202
NM_005989.4(AKR1D1):c.*1288A>C rs554615032 0.00150
NM_005989.4(AKR1D1):c.*710T>C rs187527428 0.00093
NM_005989.4(AKR1D1):c.*1326C>T rs761355508 0.00085
NM_005989.4(AKR1D1):c.*1214A>G rs758246977 0.00043
NM_005989.4(AKR1D1):c.*1185G>A rs551510105 0.00042
NM_005989.4(AKR1D1):c.*734T>C rs947695035 0.00034
NM_005989.4(AKR1D1):c.*1352G>A rs567268853 0.00031
NM_005989.4(AKR1D1):c.*197G>T rs746014627 0.00025
NM_005989.4(AKR1D1):c.446C>T (p.Ala149Val) rs202238711 0.00018
NM_005989.4(AKR1D1):c.*1124A>G rs2465920 0.00017
NM_005989.4(AKR1D1):c.*373G>A rs564875098 0.00014
NM_005989.4(AKR1D1):c.-26T>G rs374681767 0.00013
NM_005989.4(AKR1D1):c.*171T>C rs369864342 0.00009
NM_005989.4(AKR1D1):c.*598G>A rs760144602 0.00008
NM_005989.4(AKR1D1):c.*886T>G rs976591007 0.00008
NM_005989.4(AKR1D1):c.782G>A (p.Arg261His) rs143101649 0.00007
NM_005989.4(AKR1D1):c.*1343C>T rs150650955 0.00006
NM_005989.4(AKR1D1):c.*1559A>T rs139772485 0.00006
NM_005989.4(AKR1D1):c.*944T>C rs886062008 0.00006
NM_005989.4(AKR1D1):c.261+1G>T rs201988060 0.00006
NM_005989.4(AKR1D1):c.*1384T>G rs1459809632 0.00005
NM_005989.4(AKR1D1):c.*421T>C rs762295047 0.00005
NM_005989.4(AKR1D1):c.773T>C (p.Ile258Thr) rs777588106 0.00005
NM_005989.4(AKR1D1):c.*655T>C rs140378104 0.00003
NM_005989.4(AKR1D1):c.655T>C (p.Tyr219His) rs201408607 0.00003
NM_005989.4(AKR1D1):c.*102C>A rs1298100020 0.00002
NM_005989.4(AKR1D1):c.*1084G>A rs1261468821 0.00002
NM_005989.4(AKR1D1):c.*1282G>A rs534922267 0.00002
NM_005989.4(AKR1D1):c.380C>T (p.Pro127Leu) rs140421486 0.00002
NM_005989.4(AKR1D1):c.392T>A (p.Ile131Lys) rs760200311 0.00002
NM_005989.4(AKR1D1):c.*1036T>C rs1157240213 0.00001
NM_005989.4(AKR1D1):c.*1091C>T rs886062009 0.00001
NM_005989.4(AKR1D1):c.*1298A>G rs886062011 0.00001
NM_005989.4(AKR1D1):c.*432A>G rs1432820342 0.00001
NM_005989.4(AKR1D1):c.454G>A (p.Glu152Lys) rs1457496759 0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser) rs753124330 0.00001
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter) rs1433614577 0.00001
NM_005989.4(AKR1D1):c.*1086G>A rs1043343454
NM_005989.4(AKR1D1):c.*1139G>T rs566511122
NM_005989.4(AKR1D1):c.*1153C>T rs112833888
NM_005989.4(AKR1D1):c.*1173A>C rs111628978
NM_005989.4(AKR1D1):c.*1173A>T rs111628978
NM_005989.4(AKR1D1):c.*1199T>A rs886062010
NM_005989.4(AKR1D1):c.*1218G>A rs913668617
NM_005989.4(AKR1D1):c.*1229G>C rs564962238
NM_005989.4(AKR1D1):c.*1305C>A rs143946931
NM_005989.4(AKR1D1):c.*1435G>A rs571386408
NM_005989.4(AKR1D1):c.*1631A>C rs1794680646
NM_005989.4(AKR1D1):c.*294C>A rs886062005
NM_005989.4(AKR1D1):c.*298A>G rs886062006
NM_005989.4(AKR1D1):c.*375A>G rs1794647761
NM_005989.4(AKR1D1):c.*667C>T rs911290733
NM_005989.4(AKR1D1):c.*748C>T rs146490110
NM_005989.4(AKR1D1):c.*834T>G rs1794657409
NM_005989.4(AKR1D1):c.*897T>C rs886062007
NM_005989.4(AKR1D1):c.*914C>T rs541055311
NM_005989.4(AKR1D1):c.*933T>C rs951288773
NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)
NM_005989.4(AKR1D1):c.195G>A (p.Gly65=) rs1793989572
NM_005989.4(AKR1D1):c.21T>G (p.Ser7Arg) rs769312349
NM_005989.4(AKR1D1):c.297C>T (p.Arg99=) rs1794085311
NM_005989.4(AKR1D1):c.346C>G (p.Leu116Val) rs886062004
NM_005989.4(AKR1D1):c.467_469dup (p.Ala156_Cys157insSer)
NM_005989.4(AKR1D1):c.642T>C (p.Ile214=) rs1585738925
NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr) rs1794440472
NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del)
NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg) rs1562937700
NM_005989.4(AKR1D1):c.689+1G>T rs575025641
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_005989.4(AKR1D1):c.949C>T (p.His317Tyr)

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