ClinVar Miner

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

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 309
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014324.5(AMACR):c.-70G>A rs563347179 0.00386
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_014324.6(AMACR):c.*2044C>A rs529140346 0.00135
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_014324.6(AMACR):c.*2088A>T rs182361997 0.00114
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.*714T>C rs143877467 0.00072
NM_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00054
NM_014324.6(AMACR):c.*1110G>T rs141969465 0.00053
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_014324.6(AMACR):c.182G>C (p.Arg61Pro) rs765322702 0.00026
NM_014324.6(AMACR):c.*233T>C rs557294515 0.00023
NM_014324.6(AMACR):c.783G>A (p.Met261Ile) rs9282593 0.00022
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_004820.5(CYP7B1):c.350A>C (p.Lys117Thr) rs138977616 0.00016
NM_005989.4(AKR1D1):c.*197G>T rs746014627 0.00016
NM_004820.5(CYP7B1):c.1457G>A (p.Arg486His) rs755729966 0.00014
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.*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_014324.6(AMACR):c.976C>T (p.Arg326Cys) rs371343345 0.00010
NM_005989.4(AKR1D1):c.*171T>C rs369864342 0.00009
NM_014324.6(AMACR):c.518G>A (p.Arg173His) rs201818706 0.00009
NM_005989.4(AKR1D1):c.*598G>A rs760144602 0.00008
NM_005989.4(AKR1D1):c.*886T>G rs976591007 0.00008
NM_014324.6(AMACR):c.662C>T (p.Thr221Met) rs573730345 0.00008
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=) rs760192112 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_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_014324.6(AMACR):c.785A>G (p.Asp262Gly) rs141025802 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.1082G>A (p.Arg361His) rs374668256 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_014324.6(AMACR):c.514A>G (p.Thr172Ala) rs773084615 0.00004
NM_014324.6(AMACR):c.770A>G (p.Asn257Ser) rs781463041 0.00004
NM_014324.6(AMACR):c.857del (p.Ile286fs) rs772921347 0.00004
NM_014324.6(AMACR):c.874G>A (p.Ala292Thr) rs1253952136 0.00004
NM_004820.5(CYP7B1):c.1323G>A (p.Pro441=) rs201281307 0.00003
NM_004820.5(CYP7B1):c.17C>G (p.Ser6Cys) rs1044499833 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_014324.6(AMACR):c.566C>A (p.Ala189Glu) rs367814719 0.00003
NM_014324.6(AMACR):c.818A>G (p.Asp273Gly) rs1049451904 0.00003
NM_014324.6(AMACR):c.848G>C (p.Trp283Ser) rs944463227 0.00003
NM_014324.6(AMACR):c.944T>A (p.Phe315Tyr) rs113361629 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_014324.6(AMACR):c.240C>G (p.Phe80Leu) rs1044437141 0.00002
NM_014324.6(AMACR):c.265C>T (p.Gln89Ter) rs149566702 0.00002
NM_014324.6(AMACR):c.625G>C (p.Gly209Arg) rs377130820 0.00002
NM_014324.6(AMACR):c.635T>C (p.Met212Thr) rs145475619 0.00002
NM_014324.6(AMACR):c.865G>A (p.Gly289Ser) rs766952450 0.00002
NM_014324.6(AMACR):c.868A>G (p.Thr290Ala) rs759217337 0.00002
NM_014324.6(AMACR):c.86C>G (p.Ala29Gly) rs773277129 0.00002
NM_003500.4(ACOX2):c.149G>A (p.Arg50His) rs763287775 0.00001
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.*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_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.1045C>G (p.His349Asp) rs779722935 0.00001
NM_014324.6(AMACR):c.1051G>A (p.Glu351Lys) rs761488582 0.00001
NM_014324.6(AMACR):c.106C>T (p.Arg36Trp) rs769044213 0.00001
NM_014324.6(AMACR):c.1084G>A (p.Glu362Lys) rs774406448 0.00001
NM_014324.6(AMACR):c.1123A>G (p.Ser375Gly) rs200270822 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.235C>G (p.Pro79Ala) rs938653823 0.00001
NM_014324.6(AMACR):c.254T>C (p.Met85Thr) rs936948409 0.00001
NM_014324.6(AMACR):c.317G>A (p.Arg106Lys) rs752862912 0.00001
NM_014324.6(AMACR):c.319C>A (p.Leu107Met) rs1376599461 0.00001
NM_014324.6(AMACR):c.364C>T (p.His122Tyr) rs1279600909 0.00001
NM_014324.6(AMACR):c.366C>T (p.His122=) rs775128044 0.00001
NM_014324.6(AMACR):c.367G>A (p.Asp123Asn) rs771615304 0.00001
NM_014324.6(AMACR):c.387G>C (p.Leu129Phe) rs917667584 0.00001
NM_014324.6(AMACR):c.407T>C (p.Ile136Thr) rs1753921208 0.00001
NM_014324.6(AMACR):c.410G>A (p.Gly137Asp) rs777768049 0.00001
NM_014324.6(AMACR):c.423G>C (p.Glu141Asp) rs748131178 0.00001
NM_014324.6(AMACR):c.445C>A (p.Leu149Ile) rs1057520170 0.00001
NM_014324.6(AMACR):c.48G>A (p.Pro16=) rs144271819 0.00001
NM_014324.6(AMACR):c.512G>A (p.Arg171His) rs770694101 0.00001
NM_014324.6(AMACR):c.553-3A>G rs775486138 0.00001
NM_014324.6(AMACR):c.670A>G (p.Arg224Gly) rs1348790589 0.00001
NM_014324.6(AMACR):c.710A>G (p.Glu237Gly) rs553965377 0.00001
NM_014324.6(AMACR):c.749T>G (p.Leu250Arg) rs1464991426 0.00001
NM_014324.6(AMACR):c.806A>T (p.Lys269Met) rs142887272 0.00001
NM_014324.6(AMACR):c.826G>C (p.Ala276Pro) rs200687238 0.00001
NM_014324.6(AMACR):c.841G>C (p.Ala281Pro) rs371707295 0.00001
NM_014324.6(AMACR):c.887C>T (p.Pro296Leu) rs774180397 0.00001
NM_014324.6(AMACR):c.934C>T (p.Arg312Trp) rs201507169 0.00001
NM_014324.6(AMACR):c.965A>T (p.Asp322Val) rs575263204 0.00001
NM_014324.6(AMACR):c.994T>G (p.Leu332Val) rs1265714665 0.00001
NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys) rs907386068 0.00001
NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met) rs141929596 0.00001
NM_025193.4(HSD3B7):c.682C>T (p.Arg228Trp) rs746884533 0.00001
NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys) rs1020519659 0.00001
NC_000005.9:g.(?_33944753)_(35089722_?)dup
NC_000005.9:g.(?_33986409)_(33989627_?)dup
NC_000005.9:g.(?_34007858)_(34008124_?)del
NC_000005.9:g.(?_34007858)_(34935958_?)dup
NM_003500.4(ACOX2):c.1720C>T (p.Arg574Cys)
NM_003500.4(ACOX2):c.380G>A (p.Arg127Lys) rs1453813439
NM_004820.5(CYP7B1):c.1109G>A (p.Arg370His)
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>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.*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.*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.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)
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.1003C>T (p.Pro335Ser)
NM_014324.6(AMACR):c.1027G>T (p.Asp343Tyr)
NM_014324.6(AMACR):c.1036A>G (p.Ile346Val)
NM_014324.6(AMACR):c.1040dup (p.Glu348fs) rs1255254263
NM_014324.6(AMACR):c.1070T>C (p.Phe357Ser)
NM_014324.6(AMACR):c.1081C>T (p.Arg361Cys)
NM_014324.6(AMACR):c.1097A>G (p.Gln366Arg) rs773780297
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014324.6(AMACR):c.1108G>C (p.Asp370His)
NM_014324.6(AMACR):c.1109A>G (p.Asp370Gly) rs2112032028
NM_014324.6(AMACR):c.1114A>G (p.Ile372Val)
NM_014324.6(AMACR):c.1126A>T (p.Asn376Tyr)
NM_014324.6(AMACR):c.116C>T (p.Ser39Phe) rs2112078262
NM_014324.6(AMACR):c.119G>C (p.Arg40Pro)
NM_014324.6(AMACR):c.124G>A (p.Asp42Asn)
NM_014324.6(AMACR):c.127_128delinsAG (p.Val43Arg) rs1554006390
NM_014324.6(AMACR):c.137T>G (p.Leu46Trp) rs1396372839
NM_014324.6(AMACR):c.139G>T (p.Gly47Cys) rs2112078140
NM_014324.6(AMACR):c.13G>A (p.Gly5Ser) rs1192420459
NM_014324.6(AMACR):c.143G>T (p.Arg48Leu)
NM_014324.6(AMACR):c.149A>G (p.Lys50Arg)
NM_014324.6(AMACR):c.152G>T (p.Arg51Leu)
NM_014324.6(AMACR):c.160G>C (p.Val54Leu)
NM_014324.6(AMACR):c.179C>T (p.Pro60Leu)
NM_014324.6(AMACR):c.184G>T (p.Gly62Ter) rs891858540
NM_014324.6(AMACR):c.187G>A (p.Ala63Thr)
NM_014324.6(AMACR):c.193G>A (p.Val65Met) rs1306513083
NM_014324.6(AMACR):c.19T>A (p.Ser7Thr)
NM_014324.6(AMACR):c.200G>T (p.Arg67Leu)
NM_014324.6(AMACR):c.203G>T (p.Arg68Leu) rs2112077728
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro) rs915168123
NM_014324.6(AMACR):c.20C>T (p.Ser7Leu)
NM_014324.6(AMACR):c.223G>C (p.Val75Leu)
NM_014324.6(AMACR):c.253A>G (p.Met85Val) rs746627394
NM_014324.6(AMACR):c.255G>A (p.Met85Ile)
NM_014324.6(AMACR):c.255_263del (p.Met85_Leu88delinsIle)
NM_014324.6(AMACR):c.275del (p.Pro92fs)
NM_014324.6(AMACR):c.27G>A (p.Val9=) rs780679627
NM_014324.6(AMACR):c.283C>G (p.Leu95Val) rs2112072698
NM_014324.6(AMACR):c.289C>A (p.Arg97=) rs757072374
NM_014324.6(AMACR):c.289C>T (p.Arg97Trp) rs757072374
NM_014324.6(AMACR):c.290G>C (p.Arg97Pro) rs139273474
NM_014324.6(AMACR):c.30G>T (p.Glu10Asp)
NM_014324.6(AMACR):c.31C>G (p.Leu11Val) rs1032174171
NM_014324.6(AMACR):c.323G>C (p.Ser108Thr)
NM_014324.6(AMACR):c.342_362del (p.Ser115_Gly121del)
NM_014324.6(AMACR):c.343A>G (p.Ser115Gly)
NM_014324.6(AMACR):c.352C>T (p.Arg118Trp)
NM_014324.6(AMACR):c.361_362delinsTT (p.Gly121Phe)
NM_014324.6(AMACR):c.370A>G (p.Ile124Val) rs1477299437
NM_014324.6(AMACR):c.37G>C (p.Gly13Arg)
NM_014324.6(AMACR):c.38G>T (p.Gly13Val)
NM_014324.6(AMACR):c.391+3A>G rs1753952875
NM_014324.6(AMACR):c.391+4T>A
NM_014324.6(AMACR):c.394G>A (p.Val132Ile)
NM_014324.6(AMACR):c.419G>A (p.Gly140Asp) rs2112070079
NM_014324.6(AMACR):c.421G>A (p.Glu141Lys) rs2112070061
NM_014324.6(AMACR):c.422A>C (p.Glu141Ala) rs2112070052
NM_014324.6(AMACR):c.437C>T (p.Pro146Leu)
NM_014324.6(AMACR):c.43G>A (p.Ala15Thr)
NM_014324.6(AMACR):c.43del (p.Ala15fs)
NM_014324.6(AMACR):c.476T>C (p.Met159Thr)
NM_014324.6(AMACR):c.496A>G (p.Met166Val)
NM_014324.6(AMACR):c.4G>A (p.Ala2Thr)
NM_014324.6(AMACR):c.506T>C (p.Phe169Ser)
NM_014324.6(AMACR):c.517C>T (p.Arg173Cys)
NM_014324.6(AMACR):c.538A>G (p.Ile180Val)
NM_014324.6(AMACR):c.544G>A (p.Ala182Thr) rs2112069628
NM_014324.6(AMACR):c.547A>G (p.Asn183Asp) rs2112069615
NM_014324.6(AMACR):c.552+3A>T
NM_014324.6(AMACR):c.552+4A>T
NM_014324.6(AMACR):c.553-1G>A
NM_014324.6(AMACR):c.553-5C>A rs1753722683
NM_014324.6(AMACR):c.563C>G (p.Thr188Arg)
NM_014324.6(AMACR):c.566C>T (p.Ala189Val)
NM_014324.6(AMACR):c.572T>A (p.Leu191Ter) rs2112054992
NM_014324.6(AMACR):c.580T>C (p.Phe194Leu) rs2112054973
NM_014324.6(AMACR):c.602T>G (p.Leu201Trp) rs2287939
NM_014324.6(AMACR):c.604A>T (p.Ser202Cys)
NM_014324.6(AMACR):c.616G>A (p.Ala206Thr)
NM_014324.6(AMACR):c.61G>T (p.Ala21Ser) rs2112078509
NM_014324.6(AMACR):c.623G>A (p.Arg208Gln) rs975712828
NM_014324.6(AMACR):c.632A>C (p.Asn211Thr)
NM_014324.6(AMACR):c.689T>A (p.Phe230Tyr)
NM_014324.6(AMACR):c.698T>C (p.Val233Ala) rs76184600
NM_014324.6(AMACR):c.713C>T (p.Pro238Leu) rs778295213
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
NM_014324.6(AMACR):c.728T>G (p.Leu243Arg) rs2112054267
NM_014324.6(AMACR):c.737A>G (p.Lys246Arg) rs2112054224
NM_014324.6(AMACR):c.739+3A>C
NM_014324.6(AMACR):c.740-2del rs2112033441
NM_014324.6(AMACR):c.740-3C>T
NM_014324.6(AMACR):c.740-5C>G rs770927461
NM_014324.6(AMACR):c.740-8_740-6delinsGGA rs2112033482
NM_014324.6(AMACR):c.755C>T (p.Ser252Phe)
NM_014324.6(AMACR):c.774G>C (p.Gln258His) rs1753409460
NM_014324.6(AMACR):c.775A>G (p.Met259Val) rs2112033298
NM_014324.6(AMACR):c.779G>A (p.Ser260Asn)
NM_014324.6(AMACR):c.781A>T (p.Met261Leu) rs878852990
NM_014324.6(AMACR):c.793C>A (p.Pro265Thr) rs2112033195
NM_014324.6(AMACR):c.803A>C (p.Lys268Thr)
NM_014324.6(AMACR):c.803A>T (p.Lys268Met) rs151086469
NM_014324.6(AMACR):c.818A>C (p.Asp273Ala)
NM_014324.6(AMACR):c.820G>A (p.Val274Ile) rs769669689
NM_014324.6(AMACR):c.846G>T (p.Glu282Asp)
NM_014324.6(AMACR):c.849G>A (p.Trp283Ter) rs2112032937
NM_014324.6(AMACR):c.856A>G (p.Ile286Val)
NM_014324.6(AMACR):c.884C>T (p.Thr295Ile) rs2112032792
NM_014324.6(AMACR):c.889G>A (p.Val297Ile) rs886060530
NM_014324.6(AMACR):c.89G>A (p.Arg30His) rs1370754918
NM_014324.6(AMACR):c.908_909delinsAG (p.Val303Glu) rs2112032750
NM_014324.6(AMACR):c.913C>T (p.His305Tyr)
NM_014324.6(AMACR):c.914A>T (p.His305Leu)
NM_014324.6(AMACR):c.937G>A (p.Gly313Ser) rs886060529
NM_014324.6(AMACR):c.941C>G (p.Ser314Trp)
NM_014324.6(AMACR):c.941C>T (p.Ser314Leu) rs747129541
NM_014324.6(AMACR):c.945T>G (p.Phe315Leu)
NM_014324.6(AMACR):c.94G>A (p.Val32Ile) rs762048386
NM_014324.6(AMACR):c.961C>G (p.Gln321Glu)
NM_014324.6(AMACR):c.967G>A (p.Val323Met)
NM_014324.6(AMACR):c.967G>T (p.Val323Leu)
NM_014324.6(AMACR):c.976dup (p.Arg326fs) rs1266524888
NM_014324.6(AMACR):c.998_999insACAA (p.Asn333fs)
NM_025193.4(HSD3B7):c.143C>G (p.Pro48Arg)
NM_025193.4(HSD3B7):c.569G>A (p.Arg190His)
NM_025193.4(HSD3B7):c.968C>T (p.Thr323Met)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.