ClinVar Miner

List of variants studied for 46,XY disorder of sex development of gynecological interest by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 335
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HGVS dbSNP
NC_000007.14:g.75915138G>C
NC_000008.11:g.38150970C>T
NC_000008.11:g.38150990G>A
NM_000102.4(CYP17A1):c.*130C>T rs886046665
NM_000102.4(CYP17A1):c.*65C>A rs537220295
NM_000102.4(CYP17A1):c.*67C>A rs886046666
NM_000102.4(CYP17A1):c.-14G>A rs17115125
NM_000102.4(CYP17A1):c.-15C>T rs140012815
NM_000102.4(CYP17A1):c.-33G>A
NM_000102.4(CYP17A1):c.-34T>C rs743572
NM_000102.4(CYP17A1):c.100C>T (p.Leu34=)
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His)
NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=)
NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) rs554217514
NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) rs138630127
NM_000102.4(CYP17A1):c.138C>T (p.His46=) rs6162
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=)
NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) rs6163
NM_000102.4(CYP17A1):c.200G>A (p.Arg67His)
NM_000102.4(CYP17A1):c.298-11G>C rs188885755
NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser)
NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) rs142435666
NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser)
NM_000102.4(CYP17A1):c.753+13G>A
NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) rs746480412
NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=)
NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys)
NM_000197.2(HSD17B3):c.*148C>A
NM_000197.2(HSD17B3):c.*1C>T
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478
NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys) rs1017003712
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000197.2(HSD17B3):c.277+4A>T rs201115371
NM_000197.2(HSD17B3):c.278-6G>C
NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr)
NM_000197.2(HSD17B3):c.333C>T (p.Asp111=) rs35189151
NM_000197.2(HSD17B3):c.386-5G>A
NM_000197.2(HSD17B3):c.435C>T (p.Asn145=)
NM_000197.2(HSD17B3):c.441G>A (p.Pro147=)
NM_000197.2(HSD17B3):c.489+9T>C rs370307178
NM_000197.2(HSD17B3):c.490-4G>T
NM_000197.2(HSD17B3):c.540C>T (p.Ile180=)
NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly)
NM_000197.2(HSD17B3):c.663C>T (p.Val221=)
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=)
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479
NM_000197.2(HSD17B3):c.880C>T (p.Leu294=) rs762619509
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480
NM_000197.2(HSD17B3):c.9C>T (p.Asp3=) rs139582148
NM_000198.4(HSD3B2):c.*121C>A rs886045198
NM_000198.4(HSD3B2):c.*177C>T rs886045199
NM_000198.4(HSD3B2):c.*202A>G rs9282704
NM_000198.4(HSD3B2):c.*276C>T rs1819698
NM_000198.4(HSD3B2):c.*321C>G rs1361530
NM_000198.4(HSD3B2):c.*397T>A rs753468192
NM_000198.4(HSD3B2):c.*411T>C
NM_000198.4(HSD3B2):c.*46C>T rs371081728
NM_000198.4(HSD3B2):c.*96C>G rs9282703
NM_000198.4(HSD3B2):c.-106T>C
NM_000198.4(HSD3B2):c.1012G>A (p.Ala338Thr)
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=) rs781770416
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser) rs376207606
NM_000198.4(HSD3B2):c.220G>A (p.Asp74Asn)
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.4(HSD3B2):c.308-14C>A
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.308-9C>T
NM_000198.4(HSD3B2):c.333T>G (p.Cys111Trp) rs886045196
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val)
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.510G>C (p.Gly170=) rs886045197
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.625G>A (p.Gly209Arg) rs587669956
NM_000198.4(HSD3B2):c.659T>C (p.Val220Ala)
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.777G>A (p.Thr259=) rs33926546
NM_000198.4(HSD3B2):c.789C>G (p.Ser263Arg) rs771688849
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr)
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)
NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-62G>C rs632148
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.4(SRD5A2):c.*1056G>C rs28383085
NM_000348.4(SRD5A2):c.*1133A>G rs886055949
NM_000348.4(SRD5A2):c.*1151_*1152dup rs74702388
NM_000348.4(SRD5A2):c.*1152del rs74702388
NM_000348.4(SRD5A2):c.*119C>T
NM_000348.4(SRD5A2):c.*120G>A
NM_000348.4(SRD5A2):c.*1242A>G
NM_000348.4(SRD5A2):c.*1273A>G rs28383086
NM_000348.4(SRD5A2):c.*1290C>A
NM_000348.4(SRD5A2):c.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*1384A>G
NM_000348.4(SRD5A2):c.*1422G>A
NM_000348.4(SRD5A2):c.*1440T>G
NM_000348.4(SRD5A2):c.*1492A>G
NM_000348.4(SRD5A2):c.*1504A>T
NM_000348.4(SRD5A2):c.*1552G>A rs1042578
NM_000348.4(SRD5A2):c.*224A>T rs28383083
NM_000348.4(SRD5A2):c.*259T>C rs61750400
NM_000348.4(SRD5A2):c.*278C>T
NM_000348.4(SRD5A2):c.*286A>G rs886055952
NM_000348.4(SRD5A2):c.*307A>G
NM_000348.4(SRD5A2):c.*372G>A
NM_000348.4(SRD5A2):c.*392A>C
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.*510T>G
NM_000348.4(SRD5A2):c.*572C>T
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*672T>A
NM_000348.4(SRD5A2):c.*686G>T rs886055950
NM_000348.4(SRD5A2):c.*849A>G rs9332975
NM_000348.4(SRD5A2):c.*88T>A rs370989010
NM_000348.4(SRD5A2):c.*88_*91delinsACCTATATATATATATATATATAT rs886055954
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*90_*91delinsATATATATATATATATATATATATATATATATATATAT rs886055953
NM_000348.4(SRD5A2):c.*91C>T rs192604242
NM_000348.4(SRD5A2):c.*981G>A
NM_000348.4(SRD5A2):c.-20C>T
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000349.2(STAR):c.-249C>A rs886062906
NM_000349.2(STAR):c.-255G>T rs567801443
NM_000349.3(STAR):c.*1122T>A rs72556520
NM_000349.3(STAR):c.*116T>G rs35462433
NM_000349.3(STAR):c.*1472C>T
NM_000349.3(STAR):c.*1473G>A
NM_000349.3(STAR):c.*1513C>G
NM_000349.3(STAR):c.*1524A>G rs3990403
NM_000349.3(STAR):c.*1543C>A rs748527738
NM_000349.3(STAR):c.*1557A>G
NM_000349.3(STAR):c.*187T>C
NM_000349.3(STAR):c.*230A>G rs34575008
NM_000349.3(STAR):c.*348C>T rs886062904
NM_000349.3(STAR):c.*395G>A
NM_000349.3(STAR):c.*456C>T
NM_000349.3(STAR):c.*550A>C
NM_000349.3(STAR):c.*556A>G rs886062903
NM_000349.3(STAR):c.*688C>T
NM_000349.3(STAR):c.*698C>A
NM_000349.3(STAR):c.*699C>G
NM_000349.3(STAR):c.*768G>A
NM_000349.3(STAR):c.*796A>G rs886062902
NM_000349.3(STAR):c.*817C>T rs886062901
NM_000349.3(STAR):c.*818G>A rs558498679
NM_000349.3(STAR):c.*880C>T
NM_000349.3(STAR):c.*88G>C rs112828857
NM_000349.3(STAR):c.*897C>T
NM_000349.3(STAR):c.*913C>T rs551135472
NM_000349.3(STAR):c.*930C>T
NM_000349.3(STAR):c.*93C>T rs776003335
NM_000349.3(STAR):c.*981A>G rs188232971
NM_000349.3(STAR):c.*987A>G rs28361934
NM_000349.3(STAR):c.-16C>T
NM_000349.3(STAR):c.-70G>T rs370257148
NM_000349.3(STAR):c.108C>T (p.Asn36=)
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000349.3(STAR):c.141G>A (p.Thr47=)
NM_000349.3(STAR):c.153G>A (p.Gln51=) rs72552290
NM_000349.3(STAR):c.157C>G (p.Arg53Gly)
NM_000349.3(STAR):c.158G>C (p.Arg53Pro)
NM_000349.3(STAR):c.178+7G>A
NM_000349.3(STAR):c.178+9T>C rs777624416
NM_000349.3(STAR):c.179-14G>A
NM_000349.3(STAR):c.306+10G>A
NM_000349.3(STAR):c.312T>C (p.Asn104=)
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.411C>T (p.Leu137=)
NM_000349.3(STAR):c.466-5G>A rs375678713
NM_000349.3(STAR):c.481G>A (p.Gly161Arg)
NM_000349.3(STAR):c.484A>C (p.Lys162Gln) rs886062905
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315
NM_000349.3(STAR):c.650+13G>T
NM_000349.3(STAR):c.687G>A (p.Pro229=)
NM_000349.3(STAR):c.731G>A (p.Ser244Asn)
NM_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.-59A>G rs567971184
NM_000781.3(CYP11A1):c.1073C>T (p.Ala358Val)
NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg)
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391
NM_000781.3(CYP11A1):c.1158-5C>T
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
NM_000781.3(CYP11A1):c.1167C>T (p.Pro389=)
NM_000781.3(CYP11A1):c.1201G>A (p.Asp401Asn) rs886051479
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000781.3(CYP11A1):c.23C>T (p.Pro8Leu)
NM_000781.3(CYP11A1):c.25C>T (p.Arg9Cys)
NM_000781.3(CYP11A1):c.261G>A (p.Pro87=)
NM_000781.3(CYP11A1):c.269+4A>G rs199573967
NM_000781.3(CYP11A1):c.280G>A (p.Gly94Ser)
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.371C>T (p.Pro124Leu)
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile)
NM_000781.3(CYP11A1):c.567G>A (p.Ala189=) rs770022852
NM_000781.3(CYP11A1):c.589G>C (p.Asp197His) rs886051480
NM_000781.3(CYP11A1):c.625+15A>G
NM_000781.3(CYP11A1):c.650A>C (p.Glu217Ala) rs143879080
NM_000781.3(CYP11A1):c.757G>C (p.Asp253His)
NM_000781.3(CYP11A1):c.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205
NM_000781.3(CYP11A1):c.915C>G (p.Leu305=)
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000781.3(CYP11A1):c.999G>A (p.Met333Ile)
NM_000941.2(POR):c.-33G>T rs72553977
NM_000941.2(POR):c.-47A>C rs3823884
NM_000941.2(POR):c.-80A>C rs886062437
NM_000941.3(POR):c.*137G>A rs886062443
NM_000941.3(POR):c.*178C>T
NM_000941.3(POR):c.*179G>A rs184275273
NM_000941.3(POR):c.*207C>G
NM_000941.3(POR):c.*218C>T
NM_000941.3(POR):c.*219G>T
NM_000941.3(POR):c.*21C>A rs782245884
NM_000941.3(POR):c.*240C>T rs13921
NM_000941.3(POR):c.*273T>C
NM_000941.3(POR):c.*291G>A rs886062445
NM_000941.3(POR):c.*306G>A rs17685
NM_000941.3(POR):c.*33C>T
NM_000941.3(POR):c.*372G>A rs2286824
NM_000941.3(POR):c.*40T>G
NM_000941.3(POR):c.*51C>T
NM_000941.3(POR):c.*60C>T rs72557960
NM_000941.3(POR):c.*63C>T
NM_000941.3(POR):c.*76G>A rs55909219
NM_000941.3(POR):c.-5+8C>G
NM_000941.3(POR):c.-5+9T>C
NM_000941.3(POR):c.-5G>A rs886062438
NM_000941.3(POR):c.-5G>C rs886062438
NM_000941.3(POR):c.-5G>T rs886062438
NM_000941.3(POR):c.1000G>A (p.Val334Ile)
NM_000941.3(POR):c.1042G>A (p.Val348Ile)
NM_000941.3(POR):c.1067-13C>G rs4732516
NM_000941.3(POR):c.1101T>A (p.Pro367=) rs782729580
NM_000941.3(POR):c.1104G>A (p.Thr368=) rs150414675
NM_000941.3(POR):c.112G>A (p.Val38Met)
NM_000941.3(POR):c.1152G>A (p.Pro384=)
NM_000941.3(POR):c.1161C>T (p.Asn387=)
NM_000941.3(POR):c.1185C>T (p.Tyr395=)
NM_000941.3(POR):c.1191G>A (p.Ser397=)
NM_000941.3(POR):c.1200G>A (p.Ser400=) rs372401863
NM_000941.3(POR):c.1217G>A (p.Arg406His)
NM_000941.3(POR):c.1236C>T (p.Ser412=) rs41301424
NM_000941.3(POR):c.1245C>T (p.Gly415=)
NM_000941.3(POR):c.1248+12C>T rs2286822
NM_000941.3(POR):c.1265G>T (p.Trp422Leu)
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1384G>A (p.Ala462Thr)
NM_000941.3(POR):c.1398+10G>A
NM_000941.3(POR):c.1398+15T>A
NM_000941.3(POR):c.1414G>C (p.Val472Leu)
NM_000941.3(POR):c.1455T>C (p.Ala485=) rs2228104
NM_000941.3(POR):c.1491G>T (p.Leu497=)
NM_000941.3(POR):c.1501G>A (p.Glu501Lys) rs782697310
NM_000941.3(POR):c.1508C>T (p.Ala503Val) rs1057868
NM_000941.3(POR):c.1519G>A (p.Gly507Ser)
NM_000941.3(POR):c.1521C>T (p.Gly507=) rs370823127
NM_000941.3(POR):c.1564C>T (p.Arg522Cys) rs782533830
NM_000941.3(POR):c.1587G>A (p.Thr529=)
NM_000941.3(POR):c.158A>T (p.Glu53Val) rs376145249
NM_000941.3(POR):c.1594A>G (p.Ile532Val) rs886062442
NM_000941.3(POR):c.159A>C (p.Glu53Asp) rs370701548
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000941.3(POR):c.1609G>C (p.Gly537Arg)
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.1669+5G>C
NM_000941.3(POR):c.1670-4G>A
NM_000941.3(POR):c.169T>C (p.Phe57Leu) rs782711779
NM_000941.3(POR):c.1702G>A (p.Gly568Ser) rs779082897
NM_000941.3(POR):c.1715C>T (p.Ser572Leu)
NM_000941.3(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.3(POR):c.1730T>C (p.Leu577Pro) rs56256515
NM_000941.3(POR):c.1759A>G (p.Arg587Gly) rs781795917
NM_000941.3(POR):c.1764C>T (p.Asp588=) rs72557949
NM_000941.3(POR):c.1815+12G>A rs371432868
NM_000941.3(POR):c.1815+7C>T rs72557951
NM_000941.3(POR):c.1815+8G>A rs72557952
NM_000941.3(POR):c.1876G>A (p.Gly626Ser)
NM_000941.3(POR):c.189-10T>C rs374111607
NM_000941.3(POR):c.1891G>A (p.Val631Ile) rs145782750
NM_000941.3(POR):c.1898+13G>T rs72557956
NM_000941.3(POR):c.1898+3G>A rs41301439
NM_000941.3(POR):c.1935C>T (p.Thr645=)
NM_000941.3(POR):c.1948G>A (p.Val650Met) rs148175064
NM_000941.3(POR):c.1953T>G (p.Ala651=)
NM_000941.3(POR):c.235A>G (p.Thr79Ala)
NM_000941.3(POR):c.238-5C>T
NM_000941.3(POR):c.317A>G (p.His106Arg)
NM_000941.3(POR):c.320G>A (p.Arg107His)
NM_000941.3(POR):c.324C>T (p.Tyr108=)
NM_000941.3(POR):c.325G>A (p.Gly109Arg) rs372623440
NM_000941.3(POR):c.366+14G>A rs372941705
NM_000941.3(POR):c.369C>T (p.Ala123=) rs41299490
NM_000941.3(POR):c.387A>G (p.Pro129=) rs1135612
NM_000941.3(POR):c.399C>T (p.Asn133=) rs181837747
NM_000941.3(POR):c.429C>T (p.Tyr143=)
NM_000941.3(POR):c.469G>A (p.Asp157Asn)
NM_000941.3(POR):c.490G>A (p.Val164Met) rs200112691
NM_000941.3(POR):c.513C>T (p.Phe171=)
NM_000941.3(POR):c.515C>T (p.Ala172Val) rs374967948
NM_000941.3(POR):c.517-4G>A rs41299496
NM_000941.3(POR):c.561G>T (p.Met187Ile)
NM_000941.3(POR):c.569A>G (p.Tyr190Cys)
NM_000941.3(POR):c.571G>A (p.Val191Met) rs201513102
NM_000941.3(POR):c.571G>C (p.Val191Leu) rs201513102
NM_000941.3(POR):c.624G>A (p.Leu208=)
NM_000941.3(POR):c.642-5C>G rs72555509
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000941.3(POR):c.719G>A (p.Gly240Asp)
NM_000941.3(POR):c.744C>T (p.Tyr248=) rs201786397
NM_000941.3(POR):c.830+15C>T rs540000393
NM_000941.3(POR):c.830C>T (p.Pro277Leu)
NM_000941.3(POR):c.87G>A (p.Thr29=) rs41295381
NM_000941.3(POR):c.897C>T (p.Thr299=) rs180683888
NM_000941.3(POR):c.898G>A (p.Glu300Lys)
NM_000941.3(POR):c.947+10G>A
NM_000941.3(POR):c.947+3A>G rs782232516
NM_000941.3(POR):c.947G>C (p.Arg316Thr)
NM_000941.3(POR):c.948-14A>C rs886062441
NM_000941.3(POR):c.984C>T (p.Ala328=) rs72557941
NM_000941.3(POR):c.999C>T (p.Leu333=)
NM_031925.3(TMEM120A):c.*305A>C
NM_031925.3(TMEM120A):c.*313C>T

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