ClinVar Miner

List of variants reported as pathogenic for 46,XY disorder of sex development by Invitae

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 292
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HGVS dbSNP gnomAD frequency
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
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_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747 0.00009
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967 0.00009
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252 0.00006
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248 0.00004
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857 0.00003
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244 0.00003
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960 0.00002
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246 0.00002
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742 0.00002
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961 0.00002
NM_000348.4(SRD5A2):c.695A>G (p.His232Arg) rs748899308 0.00002
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569 0.00001
NM_000044.6(AR):c.1847G>A (p.Arg616His) rs754201976 0.00001
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492 0.00001
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133 0.00001
NM_000348.4(SRD5A2):c.100G>A (p.Gly34Arg) rs782032018 0.00001
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774 0.00001
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834 0.00001
NM_000348.4(SRD5A2):c.542C>T (p.Pro181Leu) rs1057517829 0.00001
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253 0.00001
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859 0.00001
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684 0.00001
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403 0.00001
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter) rs1423753702 0.00001
NM_024426.6(WT1):c.1387C>T (p.Arg463Ter) rs121907909 0.00001
NC_000002.11:g.(?_31751266)_(31751352_?)del
NC_000002.11:g.(?_31751266)_(31758856_?)del
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000011.10:g.(?_32389048)_(32435355_?)del
NC_000011.10:g.(?_32389058)_(32435345_?)del
NC_000011.10:g.(?_32396247)_(32400054_?)del
NC_000011.10:g.(?_32396251)_(32417660_?)del
NC_000011.10:g.(?_32434690)_(32435345_?)del
NC_000011.10:g.32396408del rs2132942367
NC_000011.9:g.(?_31284590)_(32456911_?)del
NC_000011.9:g.(?_32410604)_(32460464_?)del
NC_000011.9:g.(?_32421484)_(32421600_?)del
NC_000011.9:g.(?_32456236)_(32460464_?)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_66788225)_(67021550_?)del
NC_000023.10:g.(?_66863078)_(66905988_?)dup
NC_000023.10:g.(?_66863078)_(66943703_?)del
NC_000023.10:g.(?_66905832)_(66905988_?)del
NC_000023.10:g.(?_66931224)_(66931551_?)del
NC_000023.10:g.(?_66941655)_(66943683_?)del
NC_000023.10:g.(?_76759356)_(77042755_?)del
NC_000023.10:g.(?_76763809)_(77041507_?)del
NC_000023.10:g.(?_76763829)_(76776414_?)del
NC_000023.10:g.(?_76937002)_(76940508_?)del
NC_000023.10:g.(?_76944291)_(76972740_?)del
NC_000023.11:g.(?_67686010)_(67686126_?)del
NM_000044.6(AR):c.1063G>T (p.Glu355Ter) rs367604031
NM_000044.6(AR):c.1150dup (p.His384fs)
NM_000044.6(AR):c.1224T>A (p.Tyr408Ter)
NM_000044.6(AR):c.1314_1315del (p.Phe439fs) rs1602144930
NM_000044.6(AR):c.1335del (p.Gln445fs) rs1929749440
NM_000044.6(AR):c.1339_1342dup (p.Gly448fs)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1443C>A (p.Tyr481Ter) rs766161615
NM_000044.6(AR):c.1443C>G (p.Tyr481Ter) rs766161615
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1460del (p.Pro487fs) rs1929773822
NM_000044.6(AR):c.1477C>T (p.Gln493Ter) rs2147322621
NM_000044.6(AR):c.1605C>G (p.Tyr535Ter)
NM_000044.6(AR):c.1605del (p.Pro534_Tyr535insTer)
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
NM_000044.6(AR):c.1707del (p.Cys570fs) rs2147436378
NM_000044.6(AR):c.1715A>G (p.Tyr572Cys) rs1925886715
NM_000044.6(AR):c.1724_1725del (p.Leu575fs) rs1602220874
NM_000044.6(AR):c.1737del (p.Cys580fs) rs2147436590
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter) rs1602143232
NM_000044.6(AR):c.1756A>T (p.Arg586Ter)
NM_000044.6(AR):c.1822C>T (p.Arg608Ter) rs886041128
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.183_184insTAG (p.Gln62Ter) rs1929660142
NM_000044.6(AR):c.1844del (p.Cys615fs)
NM_000044.6(AR):c.187C>T (p.Gln63Ter)
NM_000044.6(AR):c.1885+2T>G rs2147497993
NM_000044.6(AR):c.1897A>T (p.Lys633Ter) rs1602272308
NM_000044.6(AR):c.190C>T (p.Gln64Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.1972C>T (p.Gln658Ter)
NM_000044.6(AR):c.1A>T (p.Met1Leu) rs2147313671
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
NM_000044.6(AR):c.2128G>A (p.Glu710Lys) rs2076094436
NM_000044.6(AR):c.2156G>A (p.Trp719Ter)
NM_000044.6(AR):c.2162dup (p.Ala722fs)
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2191_2199del (p.Val731_Asp733del)
NM_000044.6(AR):c.2197G>A (p.Asp733Asn) rs2147530668
NM_000044.6(AR):c.2220C>G (p.Tyr740Ter)
NM_000044.6(AR):c.2225G>A (p.Trp742Ter)
NM_000044.6(AR):c.2225G>T (p.Trp742Leu) rs2076118553
NM_000044.6(AR):c.2231G>T (p.Gly744Val) rs137852600
NM_000044.6(AR):c.2248A>G (p.Met750Val) rs1085307685
NM_000044.6(AR):c.2255G>A (p.Trp752Ter) rs2147530924
NM_000044.6(AR):c.2256G>A (p.Trp752Ter)
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2268del (p.Asn757fs)
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2319-1G>C
NM_000044.6(AR):c.2319_2321dup (p.Tyr774Ter) rs2147535489
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.2338C>T (p.Arg780Trp) rs2076137289
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.239_240insGCAGCAGC (p.Glu81fs) rs1569263642
NM_000044.6(AR):c.239_240insGCAGCAGCAGTAGCAGCAGCAGCAGCA (p.Gln80_Glu81insGlnGlnGlnTer)
NM_000044.6(AR):c.2407del (p.Gln803fs)
NM_000044.6(AR):c.2450-6C>G rs754515125
NM_000044.6(AR):c.2491C>T (p.Leu831Phe)
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2505del (p.Asn834_Tyr835insTer)
NM_000044.6(AR):c.2512G>T (p.Glu838Ter) rs1555997775
NM_000044.6(AR):c.2515C>A (p.Leu839Ile) rs2147537918
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.2528T>C (p.Ile843Thr) rs9332970
NM_000044.6(AR):c.2546dup (p.Asn849fs) rs1602279488
NM_000044.6(AR):c.2566C>T (p.Arg856Cys) rs886041132
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2667C>T (p.Ser889=) rs137852594
NM_000044.6(AR):c.2677C>T (p.Pro893Ser)
NM_000044.6(AR):c.2678C>T (p.Pro893Leu) rs1602280356
NM_000044.6(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.6(AR):c.271C>T (p.Gln91Ter) rs112374098
NM_000044.6(AR):c.2750del (p.Phe917fs) rs2147540838
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.304A>T (p.Arg102Ter)
NM_000044.6(AR):c.321C>A (p.Tyr107Ter) rs1481151440
NM_000044.6(AR):c.344_345insCAGATGAGGAACAGCA (p.Gln115delinsHisArgTer)
NM_000044.6(AR):c.358C>T (p.Gln120Ter) rs1929683441
NM_000044.6(AR):c.463G>T (p.Glu155Ter) rs764126853
NM_000044.6(AR):c.546dup (p.Asp183fs)
NM_000044.6(AR):c.559G>T (p.Glu187Ter)
NM_000044.6(AR):c.733del (p.Val245fs)
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs) rs1602144034
NM_000044.6(AR):c.829_833dup (p.Val279fs) rs2147318663
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000044.6(AR):c.967G>T (p.Glu323Ter)
NM_000348.4(SRD5A2):c.100G>C (p.Gly34Arg) rs782032018
NM_000348.4(SRD5A2):c.102del (p.Lys35fs)
NM_000348.4(SRD5A2):c.115_137del (p.Ser39fs)
NM_000348.4(SRD5A2):c.144del (p.Ala49fs)
NM_000348.4(SRD5A2):c.158G>A (p.Trp53Ter)
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.167A>G (p.Gln56Arg)
NM_000348.4(SRD5A2):c.193G>C (p.Ala65Pro) rs1186430097
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
NM_000348.4(SRD5A2):c.19C>T (p.Gln7Ter)
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.312del (p.Arg105fs)
NM_000348.4(SRD5A2):c.317del (p.Pro106fs) rs767595335
NM_000348.4(SRD5A2):c.357del (p.Phe118_Cys119insTer) rs2148066893
NM_000348.4(SRD5A2):c.383A>G (p.Tyr128Cys)
NM_000348.4(SRD5A2):c.418del (p.Trp140fs)
NM_000348.4(SRD5A2):c.431dup (p.Arg145fs)
NM_000348.4(SRD5A2):c.492_493insGA (p.Tyr165fs)
NM_000348.4(SRD5A2):c.513G>C (p.Arg171Ser)
NM_000348.4(SRD5A2):c.544C>T (p.Gln182Ter)
NM_000348.4(SRD5A2):c.547+1G>C
NM_000348.4(SRD5A2):c.564del (p.Thr187_Tyr188insTer)
NM_000348.4(SRD5A2):c.602G>A (p.Trp201Ter)
NM_000348.4(SRD5A2):c.623C>T (p.Thr208Ile) rs759318152
NM_000348.4(SRD5A2):c.656del (p.Phe219fs) rs61748127
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.683C>T (p.Ala228Val) rs1553323488
NM_000348.4(SRD5A2):c.687del (p.His230fs)
NM_000348.4(SRD5A2):c.689A>C (p.His230Pro)
NM_000348.4(SRD5A2):c.698+1G>T
NM_000348.4(SRD5A2):c.81_94delCGCGAAGCCCTCCG (p.Ala28Leufs)
NM_000348.4(SRD5A2):c.82_88del (p.Ala28fs)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter) rs122445108
NM_000489.6(ATRX):c.1252C>T (p.Arg418Ter)
NM_000489.6(ATRX):c.158del (p.Asn53fs) rs2148685852
NM_000489.6(ATRX):c.161_162del (p.Asn53_Ser54insTer)
NM_000489.6(ATRX):c.1727C>A (p.Ser576Ter) rs2071372283
NM_000489.6(ATRX):c.1960C>T (p.Arg654Ter) rs1557140492
NM_000489.6(ATRX):c.2169_2170del (p.Glu723fs)
NM_000489.6(ATRX):c.2431del (p.Gln811fs)
NM_000489.6(ATRX):c.2678dup (p.Thr894fs) rs2148591494
NM_000489.6(ATRX):c.2711T>A (p.Leu904Ter)
NM_000489.6(ATRX):c.3064C>T (p.Arg1022Ter)
NM_000489.6(ATRX):c.3089_3099del (p.Lys1030fs)
NM_000489.6(ATRX):c.4069A>T (p.Lys1357Ter) rs2070037318
NM_000489.6(ATRX):c.4116_4119del (p.Arg1372_Lys1373insTer) rs2070034528
NM_000489.6(ATRX):c.6235C>T (p.Arg2079Ter) rs2148020083
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His) rs1057517948
NM_000489.6(ATRX):c.6331C>T (p.Arg2111Ter)
NM_000489.6(ATRX):c.7141G>T (p.Glu2381Ter) rs1557041077
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) rs122445099
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_004959.5(NR5A1):c.1065_1138+158del
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1221C>A (p.Cys407Ter)
NM_004959.5(NR5A1):c.129CAA[1] (p.Asn44del) rs1832494273
NM_004959.5(NR5A1):c.231del (p.Met78fs) rs2131289701
NM_004959.5(NR5A1):c.232_244del (p.Met78fs) rs2131289687
NM_004959.5(NR5A1):c.236G>C (p.Arg79Pro)
NM_004959.5(NR5A1):c.245-2A>G
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.334C>T (p.Gln112Ter) rs1832456567
NM_004959.5(NR5A1):c.398del (p.Pro133fs) rs1588622082
NM_004959.5(NR5A1):c.572del (p.Arg191fs) rs2131286914
NM_004959.5(NR5A1):c.591C>G (p.Tyr197Ter)
NM_004959.5(NR5A1):c.601del (p.Tyr201fs)
NM_004959.5(NR5A1):c.75C>G (p.Tyr25Ter) rs2131289982
NM_004959.5(NR5A1):c.86C>T (p.Thr29Met) rs2131289973
NM_004959.5(NR5A1):c.895C>T (p.Gln299Ter) rs1564150329
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>A (p.Arg313His) rs1554721235
NM_004959.5(NR5A1):c.984del (p.Gln329fs) rs2131279850
NM_004959.5(NR5A1):c.991-18C>A
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) rs1554034036
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) rs1195263093
NM_024426.6(WT1):c.1029del (p.Tyr344fs)
NM_024426.6(WT1):c.1077C>G (p.Tyr359Ter)
NM_024426.6(WT1):c.1121_1122insGGGG (p.Arg375fs) rs2132942163
NM_024426.6(WT1):c.1149del (p.Val384fs) rs1554939839
NM_024426.6(WT1):c.1240C>T (p.Gln414Ter) rs2132939500
NM_024426.6(WT1):c.1299T>A (p.Cys433Ter)
NM_024426.6(WT1):c.1303C>T (p.Arg435Ter) rs121907906
NM_024426.6(WT1):c.1316G>A (p.Arg439His) rs121907901
NM_024426.6(WT1):c.1338C>A (p.His446Gln) rs121907907
NM_024426.6(WT1):c.1348C>T (p.His450Tyr) rs28942089
NM_024426.6(WT1):c.1372T>C (p.Cys458Arg)
NM_024426.6(WT1):c.1373G>A (p.Cys458Tyr)
NM_024426.6(WT1):c.1374del (p.Gln457_Cys458insTer)
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.1400G>A (p.Arg467Gln) rs121907903
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.1447+5G>A rs587776576
NM_024426.6(WT1):c.1499G>A (p.Arg500Gln) rs1590326226
NM_024426.6(WT1):c.225del (p.Ser76fs)
NM_024426.6(WT1):c.275dup (p.Gly93fs)
NM_024426.6(WT1):c.276del (p.Gly93fs) rs2133105444
NM_024426.6(WT1):c.314_318dup (p.Trp107fs) rs2133104877
NM_024426.6(WT1):c.334del (p.Asp112fs) rs1554946600
NM_024426.6(WT1):c.363C>A (p.Tyr121Ter)
NM_024426.6(WT1):c.368C>A (p.Ser123Ter)
NM_024426.6(WT1):c.453G>A (p.Trp151Ter)
NM_024426.6(WT1):c.455del (p.Gly152fs) rs2133103216
NM_024426.6(WT1):c.478C>T (p.Gln160Ter) rs1554946500
NM_024426.6(WT1):c.507_511delinsCACTGT (p.Ser170fs)
NM_024426.6(WT1):c.514C>T (p.Gln172Ter)
NM_024426.6(WT1):c.640C>T (p.Gln214Ter)
NM_024426.6(WT1):c.648_654dup (p.Asn219fs)
NM_024426.6(WT1):c.653del (p.Arg218fs) rs1565000973
NM_024426.6(WT1):c.682dup (p.Asp228fs) rs1554945232
NM_024426.6(WT1):c.798C>G (p.Tyr266Ter) rs2133073037
NM_024426.6(WT1):c.812del (p.Pro271fs) rs1060501253
NM_024426.6(WT1):c.834del (p.Thr279fs)
NM_024426.6(WT1):c.882C>A (p.Tyr294Ter) rs1554945031
NM_024426.6(WT1):c.882_887+3del rs2133072022
NM_024426.6(WT1):c.897del (p.Leu299fs) rs1852720329
NM_024426.6(WT1):c.913C>T (p.Gln305Ter)

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