ClinVar Miner

List of variants studied for 46,XX disorder of sex development induced by androgens excess by OMIM

Included ClinVar conditions (7):
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Total variants: 76
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HGVS dbSNP
-4C-T, PRO105LEU, AND PRO453SER
CYP11B1, 2-BP INS
CYP11B1, 954G-A
CYP11B1, CYP11B1/CYP11B2 CHIMERA
CYP19A1, 1-BP DEL, C, CODON 156
CYP21A2, 1-BP INS, 1003A
CYP21A2, 30-KB DEL
CYP21A2, ARG339HIS AND PRO453SER
CYP21A2, GENE CONVERSION CYP21 FROM CYP21P
CYP21A2, GLU380ASP
CYP21A2, GLY424SER
CYP21A2, IVS7DS, G-C, +1
NM_000103.4(CYP19A1):c.1094G>A (p.Arg365Gln) rs80051519
NM_000103.4(CYP19A1):c.1123C>T (p.Arg375Cys) rs121434536
NM_000103.4(CYP19A1):c.1224del (p.Lys409fs) rs786205108
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534
NM_000103.4(CYP19A1):c.1310G>A (p.Cys437Tyr) rs78310315
NM_000103.4(CYP19A1):c.296+1G>A rs786205109
NM_000103.4(CYP19A1):c.628G>A (p.Glu210Lys) rs121434538
NM_000103.4(CYP19A1):c.629-3C>A rs786205110
NM_000103.4(CYP19A1):c.743+2T>C rs786205107
NM_000176.3(NR3C1):c.1430G>A (p.Arg477His) rs104893913
NM_000176.3(NR3C1):c.1676T>A (p.Ile559Asn) rs104893909
NM_000176.3(NR3C1):c.1891_1892+2del rs587776832
NM_000176.3(NR3C1):c.1922A>T (p.Asp641Val) rs104893908
NM_000176.3(NR3C1):c.2035G>A (p.Gly679Ser) rs104893914
NM_000176.3(NR3C1):c.2209T>C (p.Phe737Leu) rs121909727
NM_000176.3(NR3C1):c.2241T>G (p.Ile747Met) rs104893910
NM_000176.3(NR3C1):c.2318T>C (p.Leu773Pro) rs104893912
NM_000198.4(HSD3B2):c.1022C>T (p.Pro341Leu) rs121964897
NM_000198.4(HSD3B2):c.1119A>C (p.Ter373Cys) rs80358218
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu) rs28934880
NM_000198.4(HSD3B2):c.424G>A (p.Glu142Lys) rs80358219
NM_000198.4(HSD3B2):c.512G>A (p.Trp171Ter) rs80358216
NM_000198.4(HSD3B2):c.558dup (p.Thr187fs)
NM_000198.4(HSD3B2):c.664C>A (p.Pro222Thr) rs80358220
NM_000198.4(HSD3B2):c.742_743delinsAA (p.Val248Asn) rs121964896
NM_000198.4(HSD3B2):c.776C>T (p.Thr259Met) rs80358221
NM_000198.4(HSD3B2):c.867del (p.Met290fs)
NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) rs104894071
NM_000497.3(CYP11B1):c.1121G>A (p.Arg374Gln) rs104894062
NM_000497.3(CYP11B1):c.124C>T (p.Pro42Ser) rs104894069
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000497.3(CYP11B1):c.1343G>A (p.Arg448His) rs28934586
NM_000497.3(CYP11B1):c.1398+4A>G
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.347G>A (p.Trp116Ter) rs104894066
NM_000497.3(CYP11B1):c.397A>C (p.Asn133His) rs104894067
NM_000497.3(CYP11B1):c.595+16G>T
NM_000497.3(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000497.3(CYP11B1):c.956C>T (p.Thr319Met) rs104894068
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.7(CYP21A2):c.[710T>A;713T>A;719T>A]
NM_000500.7(CYP21A2):c.[844G>T;920_921insT;955C>T;1069C>T]
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) rs151344503
NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys)
NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His)
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) rs397509367
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.293-2A>G
NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) rs267606757
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.85dup (p.His29fs)
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.3(POR):c.1706G>A (p.Cys569Tyr) rs28931607
NM_000941.3(POR):c.1822G>T (p.Val608Phe) rs72552772
NM_000941.3(POR):c.541T>G (p.Tyr181Asp) rs72552771
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974

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