ClinVar Miner

List of variants studied for congenital bile acid synthesis defect by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
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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 0.80337
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_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676 0.42007
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112 0.38660
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_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_014324.6(AMACR):c.*963C>T rs6898962 0.04660
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.*1070C>T rs16892064 0.03353
NM_014324.6(AMACR):c.353G>A (p.Arg118Gln) rs16892150 0.03193
NM_014324.6(AMACR):c.*1961G>A rs113746028 0.02910
NM_005989.4(AKR1D1):c.*1082G>C rs58526603 0.02658
NM_014324.6(AMACR):c.712C>T (p.Pro238Ser) rs9282594 0.02606
NM_014324.6(AMACR):c.*1144A>G rs840380 0.02385
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_005989.4(AKR1D1):c.*58G>C rs80147006 0.01470
NM_014324.6(AMACR):c.782T>C (p.Met261Thr) rs3195678 0.01320
NM_014324.6(AMACR):c.*982C>T rs16892066 0.01163
NM_005989.4(AKR1D1):c.*1083T>C rs12532715 0.01046
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.*1804G>T rs116206502 0.00859
NM_014324.6(AMACR):c.*976G>A rs150664086 0.00754
NM_014324.6(AMACR):c.*753T>G rs140021599 0.00704
NM_005989.4(AKR1D1):c.*1270T>C rs184548096 0.00698
NM_005989.4(AKR1D1):c.*52G>A rs147259015 0.00565
NM_014324.5(AMACR):c.-70G>A rs563347179 0.00386
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_005989.4(AKR1D1):c.*537T>C rs117215714 0.00362
NM_005989.4(AKR1D1):c.*1100A>G rs188178547 0.00228
NM_014324.6(AMACR):c.*1945A>G rs79880451 0.00225
NM_005989.4(AKR1D1):c.*1093C>G rs12540340 0.00202
NM_005989.4(AKR1D1):c.*1219C>T rs565111801 0.00161
NM_005989.4(AKR1D1):c.*1288A>C rs554615032 0.00150
NM_014324.6(AMACR):c.*1852C>T rs563065271 0.00137
NM_014324.6(AMACR):c.*2044C>A rs529140346 0.00135
NM_005989.4(AKR1D1):c.*417A>G rs151234162 0.00131
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_014324.6(AMACR):c.*2088A>T rs182361997 0.00114
NM_014324.6(AMACR):c.*1203A>G rs190329271 0.00108
NM_005989.4(AKR1D1):c.*710T>C rs187527428 0.00093
NM_014324.6(AMACR):c.*1942C>T rs543725887 0.00092
NM_005989.4(AKR1D1):c.*1326C>T rs761355508 0.00085
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_014324.6(AMACR):c.*1928T>C rs531992128 0.00079
NM_014324.6(AMACR):c.*714T>C rs143877467 0.00072
NM_005989.4(AKR1D1):c.*48C>T rs201088819 0.00069
NM_014324.6(AMACR):c.*1110G>T rs141969465 0.00053
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro) rs121917814 0.00049
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_014324.6(AMACR):c.*1366A>G rs530507195 0.00032
NM_005989.4(AKR1D1):c.*1352G>A rs567268853 0.00031
NM_014324.6(AMACR):c.*233T>C rs557294515 0.00023
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
NM_005989.4(AKR1D1):c.262-7C>A rs144365681 0.00021
NM_014324.6(AMACR):c.*1032G>C rs550891172 0.00021
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.*197G>T rs746014627 0.00016
NM_005989.4(AKR1D1):c.*373G>A rs564875098 0.00014
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030 0.00014
NM_005989.4(AKR1D1):c.-26T>G rs374681767 0.00013
NM_014324.6(AMACR):c.438G>A (p.Pro146=) rs140523570 0.00013
NM_014324.6(AMACR):c.*1643T>C rs537161888 0.00012
NM_014324.6(AMACR):c.*523C>T rs575264685 0.00010
NM_014324.6(AMACR):c.511C>T (p.Arg171Cys) rs773780945 0.00010
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_014324.6(AMACR):c.*449T>C rs550502356 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.261+1G>T rs201988060 0.00006
NM_014324.6(AMACR):c.*1353G>A rs886060525 0.00006
NM_014324.6(AMACR):c.*1560G>A rs886060524 0.00006
NM_014324.6(AMACR):c.247+9G>T rs1361255226 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_014324.6(AMACR):c.*1931G>C rs563332854 0.00005
NM_014324.6(AMACR):c.*1862C>T rs1016774406 0.00004
NM_014324.6(AMACR):c.*540T>C rs146385238 0.00004
NM_014324.6(AMACR):c.100G>C (p.Val34Leu) rs377618695 0.00004
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_005989.4(AKR1D1):c.*655T>C rs140378104 0.00003
NM_005989.4(AKR1D1):c.655T>C (p.Tyr219His) rs201408607 0.00003
NM_014324.6(AMACR):c.*1853G>A rs886060522 0.00003
NM_014324.6(AMACR):c.1001C>T (p.Thr334Ile) rs368693738 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_004820.5(CYP7B1):c.1310G>A (p.Cys437Tyr) rs886063072 0.00001
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.*1149A>C rs533559202 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.583G>T (p.Glu195Ter) rs1433614577 0.00001
NM_014324.5(AMACR):c.-40G>A rs553007226 0.00001
NM_014324.6(AMACR):c.*1181G>A rs886060526 0.00001
NM_014324.6(AMACR):c.*1367T>C rs752473789 0.00001
NM_014324.6(AMACR):c.*1622T>C rs886060523 0.00001
NM_014324.6(AMACR):c.*1875C>T rs1006230629 0.00001
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) rs761488582 0.00001
NM_014324.6(AMACR):c.1137A>T (p.Lys379Asn) rs1484335138 0.00001
NM_014324.6(AMACR):c.123C>G (p.Tyr41Ter) rs1561047456 0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) rs553965377 0.00001
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) rs371707295 0.00001
NM_004820.5(CYP7B1):c.123-19dup rs8192895
NM_004820.5(CYP7B1):c.260-15dup rs8192896
NM_004820.5(CYP7B1):c.957T>C (p.Arg319=) rs886063073
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.*1305C>A rs143946931
NM_005989.4(AKR1D1):c.*1372dup rs199524592
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.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.642T>C (p.Ile214=) rs1585738925
NM_005989.4(AKR1D1):c.689+1G>T rs575025641
NM_014324.6(AMACR):c.*1178G>A rs886060527
NM_014324.6(AMACR):c.*1764A>C rs1383745386
NM_014324.6(AMACR):c.*1985G>A rs971469605
NM_014324.6(AMACR):c.*2093A>G rs886060521
NM_014324.6(AMACR):c.*439A>G rs533094975
NM_014324.6(AMACR):c.*573dup rs886060528
NM_014324.6(AMACR):c.*805C>A rs367582757
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529

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