ClinVar Miner

List of variants studied for congenital bile acid synthesis defect 2

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 116
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HGVS dbSNP gnomAD frequency
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 0.79952
NM_005989.4(AKR1D1):c.*1163T>C rs11763063 0.26225
NM_005989.4(AKR1D1):c.*362A>C rs3735023 0.17831
NM_005989.4(AKR1D1):c.*1417C>T rs17169522 0.13508
NM_005989.4(AKR1D1):c.*1305C>A rs143946931 0.09091
NM_005989.4(AKR1D1):c.*1274A>G rs11766258 0.08627
NM_005989.4(AKR1D1):c.*1484T>C rs17169523 0.04732
NM_005989.4(AKR1D1):c.856-10G>A rs17169518 0.04717
NM_005989.4(AKR1D1):c.*1265A>G rs113105583 0.04114
NM_005989.4(AKR1D1):c.*1095T>C rs61290940 0.04068
NM_005989.4(AKR1D1):c.*1311A>C rs188138947 0.03571
NM_005989.4(AKR1D1):c.*1082G>C rs58526603 0.02658
NM_005989.4(AKR1D1):c.*879T>C rs73729460 0.01943
NM_005989.4(AKR1D1):c.477C>T (p.Asp159=) rs34703687 0.01506
NM_005989.4(AKR1D1):c.*1363A>G rs2465921 0.01452
NM_005989.4(AKR1D1):c.*58G>C rs80147006 0.01375
NM_005989.4(AKR1D1):c.*1083T>C rs12532715 0.01046
NM_005989.4(AKR1D1):c.*1085C>T rs12540339 0.00863
NM_005989.4(AKR1D1):c.*1270T>C rs184548096 0.00651
NM_005989.4(AKR1D1):c.*52G>A rs147259015 0.00596
NM_005989.4(AKR1D1):c.*537T>C rs117215714 0.00355
NM_005989.4(AKR1D1):c.*1100A>G rs188178547 0.00250
NM_005989.4(AKR1D1):c.*1093C>G rs12540340 0.00205
NM_005989.4(AKR1D1):c.*1219C>T rs565111801 0.00161
NM_005989.4(AKR1D1):c.*1288A>C rs554615032 0.00144
NM_005989.4(AKR1D1):c.*417A>G rs151234162 0.00131
NM_005989.4(AKR1D1):c.*710T>C rs187527428 0.00091
NM_005989.4(AKR1D1):c.*1326C>T rs761355508 0.00085
NM_005989.4(AKR1D1):c.*48C>T rs201088819 0.00069
NM_005989.4(AKR1D1):c.*1149A>C rs533559202 0.00060
NM_005989.4(AKR1D1):c.*1214A>G rs758246977 0.00045
NM_005989.4(AKR1D1):c.*1185G>A rs551510105 0.00044
NM_005989.4(AKR1D1):c.*1352G>A rs567268853 0.00034
NM_005989.4(AKR1D1):c.*734T>C rs947695035 0.00034
NM_005989.4(AKR1D1):c.262-7C>A rs144365681 0.00029
NM_005989.4(AKR1D1):c.*1124A>G rs2465920 0.00025
NM_005989.4(AKR1D1):c.*197G>T rs746014627 0.00023
NM_005989.4(AKR1D1):c.446C>T (p.Ala149Val) rs202238711 0.00017
NM_005989.4(AKR1D1):c.*373G>A rs564875098 0.00016
NM_005989.4(AKR1D1):c.-26T>G rs374681767 0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_005989.4(AKR1D1):c.*171T>C rs369864342 0.00009
NM_005989.4(AKR1D1):c.*886T>G rs976591007 0.00008
NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val) rs567335712 0.00008
NM_005989.4(AKR1D1):c.*598G>A rs760144602 0.00007
NM_005989.4(AKR1D1):c.782G>A (p.Arg261His) rs143101649 0.00007
NM_005989.4(AKR1D1):c.*1151A>G rs548914228 0.00006
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.*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.781C>T (p.Arg261Cys) rs267606650 0.00004
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln) rs182820353 0.00004
NM_005989.4(AKR1D1):c.864del (p.Ser290fs) rs759908186 0.00004
NM_005989.4(AKR1D1):c.*102C>A rs1298100020 0.00003
NM_005989.4(AKR1D1):c.*655T>C rs140378104 0.00003
NM_005989.4(AKR1D1):c.380C>T (p.Pro127Leu) rs140421486 0.00003
NM_005989.4(AKR1D1):c.655T>C (p.Tyr219His) rs201408607 0.00003
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.392T>A (p.Ile131Lys) rs760200311 0.00002
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg) rs267606649 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.148C>T (p.Arg50Ter) rs749224036 0.00001
NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro) rs187887082 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.647T>C (p.Ile216Thr) rs1794440472 0.00001
AKR1D1, 1-BP DEL, 511T
NM_005989.4(AKR1D1):c.*1086G>A rs1043343454
NM_005989.4(AKR1D1):c.*1139G>C rs566511122
NM_005989.4(AKR1D1):c.*1139G>T rs566511122
NM_005989.4(AKR1D1):c.*1153C>G rs112833888
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.*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.*372C>T rs142266499
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.141_142del (p.Gly48fs)
NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn) rs766798731
NM_005989.4(AKR1D1):c.174_175del (p.Tyr58_Gln59delinsTer)
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.267G>A (p.Trp89Ter) rs1236669456
NM_005989.4(AKR1D1):c.297C>T (p.Arg99=) rs1794085311
NM_005989.4(AKR1D1):c.316C>T (p.Leu106Phe) rs121918343
NM_005989.4(AKR1D1):c.346C>G (p.Leu116Val) rs886062004
NM_005989.4(AKR1D1):c.467_469dup (p.Ala156_Cys157insSer) rs2536095023
NM_005989.4(AKR1D1):c.642T>C (p.Ile214=) rs1585738925
NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del) rs2536060311
NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg) rs1562937700
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter) rs770247815
NM_005989.4(AKR1D1):c.919C>T (p.Arg307Cys) rs1337598962
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_005989.4(AKR1D1):c.949C>T (p.His317Tyr) rs2536108967

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