ClinVar Miner

List of variants reported as uncertain significance for 46,XY disorder of sex development of gynecological interest

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_000044.6(AR):c.1153G>T (p.Ala385Ser) rs200067740
NM_000044.6(AR):c.1370_1372GCG[20] (p.Gly471_Gly473dup)
NM_000044.6(AR):c.1370_1372GCG[5] (p.Gly462_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[7] (p.Gly464_Gly473del) rs746853821
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1513C>A (p.Pro505Thr) rs764238988
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441
NM_000044.6(AR):c.1814A>G (p.Asp605Gly) rs1555990478
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
NM_000044.6(AR):c.2068C>A (p.His690Asn)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2309T>G (p.Val770Gly) rs1555996870
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2512G>A (p.Glu838Lys) rs1555997775
NM_000044.6(AR):c.2633C>T (p.Thr878Ile) rs137852580
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2752del (p.His918fs)
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000348.3(SRD5A2):c.-55G>A rs577957973
NM_000348.3(SRD5A2):c.-64A>G rs886055956
NM_000348.3(SRD5A2):c.446-10_446-8delCTT rs758063160
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.*1290C>G rs549077867
NM_000348.4(SRD5A2):c.*1356A>C rs28383087
NM_000348.4(SRD5A2):c.*286A>G rs886055952
NM_000348.4(SRD5A2):c.*43G>A rs28383082
NM_000348.4(SRD5A2):c.*614T>A rs886055951
NM_000348.4(SRD5A2):c.*686G>T rs886055950
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.143C>T (p.Pro48Leu)
NM_000348.4(SRD5A2):c.230G>A (p.Gly77Glu) rs886055955
NM_000348.4(SRD5A2):c.358A>C (p.Thr120Pro)
NM_000348.4(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.4(SRD5A2):c.537G>A (p.Arg179=) rs767928056
NM_000348.4(SRD5A2):c.548-5C>G rs753272225
NM_000348.4(SRD5A2):c.548-9T>G rs1057519061
NM_000348.4(SRD5A2):c.554T>C (p.Leu185Ser) rs574377752
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308
NM_000349.3(STAR):c.149_157del (p.Asn50_Val52del) rs1554503018
NM_000349.3(STAR):c.289_291AAG[1] (p.Lys98del) rs146872295
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.563G>A (p.Arg188His) rs61736315
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) rs751759820
NM_000781.3(CYP11A1):c.-35A>G rs886051481
NM_000781.3(CYP11A1):c.-59A>G rs567971184
NM_000781.3(CYP11A1):c.1099A>T (p.Met367Leu) rs764270391
NM_000781.3(CYP11A1):c.1164C>T (p.His388=) rs537187397
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.269+4A>G rs199573967
NM_000781.3(CYP11A1):c.366C>T (p.Leu122=) rs530494910
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs) rs1567053134
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.830-14C>G rs190239248
NM_000781.3(CYP11A1):c.86G>A (p.Arg29His) rs150725205
NM_000781.3(CYP11A1):c.937T>C (p.Phe313Leu) rs1060499732
NM_000781.3(CYP11A1):c.93G>A (p.Arg31=) rs141127674
NM_000941.3(POR):c.1384G>C (p.Ala462Pro)
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu)

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