ClinVar Miner

List of variants studied for 46,XY disorder of sex development of gynecological interest by Invitae

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 85
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HGVS dbSNP
NC_000023.11:g.(?_67686010)_(67686126_?)del
NM_000044.4(AR):c.1412_1420del (p.Gly471_Gly473del) rs746853821
NM_000044.4(AR):c.1415_1420del (p.Gly472_Gly473del) rs746853821
NM_000044.4(AR):c.1418_1420delGCG (p.Gly473del) rs746853821
NM_000044.4(AR):c.1418_1420dup (p.Gly473_Glu474insGly) rs746853821
NM_000044.4(AR):c.1440dup (p.Tyr481Leufs) rs1555970004
NM_000044.4(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.4(AR):c.1443C>G (p.Tyr481Ter) rs766161615
NM_000044.4(AR):c.1451_1454del (p.Thr484Serfs)
NM_000044.4(AR):c.1536G>A (p.Val512=) rs150545747
NM_000044.4(AR):c.1614dup (p.Arg539Alafs)
NM_000044.4(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.4(AR):c.172_173insTGCAGCAGC (p.Leu57_Gln58insLeuGlnGln) rs1206863775
NM_000044.4(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.4(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.4(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.4(AR):c.1847G>A (p.Arg616His) rs754201976
NM_000044.4(AR):c.1850T>C (p.Leu617Pro) rs1555990488
NM_000044.4(AR):c.195_199delGCAGCinsTT (p.Gln65_Ala401delinsHisTer)
NM_000044.4(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.4(AR):c.2103G>T (p.Leu701Phe) rs1555995848
NM_000044.4(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.4(AR):c.213_239dupGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.216_239del (p.Gln73_Gln80del) rs3032358
NM_000044.4(AR):c.216_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.4(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.4(AR):c.225_239del (p.Gln76_Gln80del) rs3032358
NM_000044.4(AR):c.225_239dup (p.Gln80_Glu81insGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.228_239delGCAGCAGCAGCA (p.Gln77_Gln80del) rs3032358
NM_000044.4(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.4(AR):c.2318+1G>C
NM_000044.4(AR):c.231_239del (p.Gln78_Gln80del) rs3032358
NM_000044.4(AR):c.2324G>A (p.Arg775His) rs137852572
NM_000044.4(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.4(AR):c.237_239dup (p.Gln80_Glu81insGln) rs3032358
NM_000044.4(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.4(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.4(AR):c.2517C>T (p.Leu839=) rs6153
NM_000044.4(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.4(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.4(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.4(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.4(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.4(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.4(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.4(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.4(AR):c.271C>T (p.Gln91Ter)
NM_000044.4(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.4(AR):c.321C>A (p.Tyr107Ter) rs1481151440
NM_000044.4(AR):c.636G>A (p.Arg212=) rs150226204
NM_000044.4(AR):c.749dup (p.Val251Cysfs) rs1555969684
NM_000044.4(AR):c.830_845dup (p.Pro283Argfs)
NM_000044.4(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000348.3(SRD5A2):c.143C>T (p.Pro48Leu)
NM_000348.3(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.3(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.3(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960
NM_000348.3(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.3(SRD5A2):c.337C>G (p.Leu113Val) rs28383048
NM_000348.3(SRD5A2):c.358A>C (p.Thr120Pro)
NM_000348.3(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747
NM_000348.3(SRD5A2):c.385T>G (p.Tyr129Asp) rs1553324169
NM_000348.3(SRD5A2):c.548-2A>C rs61750397
NM_000348.3(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857
NM_000348.3(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.3(SRD5A2):c.594C>T (p.Ile198=) rs28383064
NM_000348.3(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961
NM_000348.3(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684
NM_000348.3(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.3(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252
NM_000348.3(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248
NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.3(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.3(SRD5A2):c.692A>G (p.His231Arg) rs121434251
NM_000348.3(SRD5A2):c.695A>G (p.His232Arg) rs748899308
NM_000348.3(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403
NM_000348.3(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967
NM_000941.2(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.2(POR):c.1384G>C (p.Ala462Pro)
NM_000941.2(POR):c.1571_1619dup (p.Ala541Leufs)
NM_000941.2(POR):c.188+2T>C
NM_000941.2(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.2(POR):c.513C>G (p.Phe171Leu)

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