ClinVar Miner

List of variants studied for 46,XY disorder of sex development by OMIM

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 143
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HGVS dbSNP gnomAD frequency
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251 0.00016
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln) rs119481075 0.00009
NM_000781.3(CYP11A1):c.835del (p.Ile279fs) rs757299093 0.00007
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_000197.2(HSD17B3):c.278-1G>C rs149607031 0.00004
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079 0.00004
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244 0.00003
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812 0.00003
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569 0.00001
NM_000044.6(AR):c.2157G>A (p.Trp719Ter) rs137852563 0.00001
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078 0.00001
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077 0.00001
NM_000197.2(HSD17B3):c.607-1G>A rs730880305 0.00001
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) rs119481074 0.00001
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253 0.00001
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met) rs122445106 0.00001
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508 0.00001
NM_018194.6(HHAT):c.860G>T (p.Gly287Val) rs1173716957 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
AR, PARTIAL DEL
NC_000002.12:g.(?_31524586)_(31580971_?)del
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.11:g.(?_71475000)_(71611000_?)del
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
NC_000023.11:g.(?_30304206_30309390_?)dup
NG_009014.2:g.(7732_?)del
NM_000044.3(AR):c.(2173+1_2174-1)_(2318+1_2319-1)del
NM_000044.3(AR):c.(2318+1_2319-1)_(2607+1_2608-1)del
NM_000044.6(AR):c.1732G>A (p.Gly578Arg) rs137852596
NM_000044.6(AR):c.1739G>T (p.Cys580Phe) rs137852586
NM_000044.6(AR):c.1748T>A (p.Phe583Tyr) rs137852587
NM_000044.6(AR):c.1769-11T>A rs2147497386
NM_000044.6(AR):c.1771A>T (p.Lys591Ter) rs137852566
NM_000044.6(AR):c.178C>T (p.Gln60Ter) rs137852575
NM_000044.6(AR):c.179dup (p.Gln61fs) rs759327087
NM_000044.6(AR):c.180_181del (p.Gln61fs) rs869320731
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.2033T>C (p.Leu678Pro) rs137852579
NM_000044.6(AR):c.2069A>C (p.His690Pro) rs137852599
NM_000044.6(AR):c.2123T>G (p.Leu708Arg) rs137852585
NM_000044.6(AR):c.2137C>T (p.Leu713Phe) rs137852595
NM_000044.6(AR):c.2222C>G (p.Ser741Cys) rs137852601
NM_000044.6(AR):c.2231G>A (p.Gly744Glu) rs137852600
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2281_2287delinsTTCGCCCCTGA (p.Arg761fs) rs869320732
NM_000044.6(AR):c.2291A>G (p.Tyr764Cys) rs137852567
NM_000044.6(AR):c.2323C>T (p.Arg775Cys) rs137852562
NM_000044.6(AR):c.2324G>A (p.Arg775His) rs137852572
NM_000044.6(AR):c.2343G>T (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2362A>G (p.Met788Val) rs137852570
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2423T>C (p.Met808Thr) rs137852592
NM_000044.6(AR):c.2449+5G>T rs1602278831
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2571C>G (p.Phe857Leu) rs137852598
NM_000044.6(AR):c.2596T>C (p.Ser866Pro) rs137852597
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2599G>T (p.Val867Leu) rs137852564
NM_000044.6(AR):c.2650A>T (p.Lys884Ter) rs137852568
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594
NM_000044.6(AR):c.4G>A (p.Glu2Lys) rs104894742
NM_000044.6(AR):c.521T>G (p.Leu174Ter) rs137852590
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.468_470del (p.Met157del) rs587776566
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.753del (p.Phe252fs) rs587776567
NM_000489.6(ATRX):c.4826A>G (p.His1609Arg) rs122445093
NM_000489.6(ATRX):c.4840T>C (p.Cys1614Arg) rs122445094
NM_000489.6(ATRX):c.4950G>T (p.Lys1650Asn) rs122445095
NM_000489.6(ATRX):c.5225G>A (p.Arg1742Lys) rs122445104
NM_000489.6(ATRX):c.5273-10T>A rs2148261114
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala) rs122445103
NM_000489.6(ATRX):c.6104A>T (p.Asp2035Val) rs122445096
NM_000489.6(ATRX):c.6250T>C (p.Tyr2084His) rs122445097
NM_000489.6(ATRX):c.6488A>G (p.Tyr2163Cys) rs122445098
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.7162G>T (p.Glu2388Ter) rs122445100
NM_000489.6(ATRX):c.751A>G (p.Lys251Glu) rs1569539477
NM_000781.3(CYP11A1):c.1244T>A (p.Val415Glu) rs121912814
NM_000781.3(CYP11A1):c.422T>G (p.Leu141Trp) rs121912813
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000781.3(CYP11A1):c.625+2dup rs2060625814
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601
NM_000781.3(CYP11A1):c.809_814dup (p.Asp271_Val272insGlyAsp) rs2060619548
NM_001308093.3(GATA4):c.664G>A (p.Gly222Arg) rs398122402
NM_003309.4(TSPYL1):c.460dup (p.Glu154fs)
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) rs104894126
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.390del (p.Pro131fs) rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) rs104894124
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) rs1131692186
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) rs387906788
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg) rs387906788
NM_005921.2(MAP3K1):c.634-8T>A rs1131692053
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) rs606231252
NM_018194.6(HHAT):c.770T>C (p.Leu257Pro) rs2092784129
NM_021044.4(DHH):c.2T>C (p.Met1Thr) rs104894346
NM_021044.4(DHH):c.304-572_492dup
NM_021044.4(DHH):c.371G>A (p.Arg124Gln) rs1565573892
NM_021044.4(DHH):c.519G>T (p.Trp173Cys) rs1939296210
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) rs1939295073
NM_024426.6(WT1):c.1208G>A (p.Cys403Tyr) rs121907904
NM_024426.6(WT1):c.1297T>G (p.Cys433Gly) rs121907905
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1315C>T (p.Arg439Cys) rs121907910
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1338C>G (p.His446Gln) rs121907907
NM_024426.6(WT1):c.1348C>T (p.His450Tyr) rs28942089
NM_024426.6(WT1):c.1393T>C (p.Phe465Leu) rs28941779
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>C (p.Arg467Pro) rs121907903
NM_024426.6(WT1):c.1405G>A (p.Asp469Asn) rs28941778
NM_024426.6(WT1):c.1406A>G (p.Asp469Gly) rs121907902
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.1447+6T>A rs587776575

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