ClinVar Miner

List of variants reported as pathogenic 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: 206
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HGVS dbSNP
AR, IVS2AS, T-A, -11
AR, PARTIAL DEL
CYP11A1, 1-BP DEL, 835A
CYP11A1, 1-BP INS, IVS3, T
CYP11A1, 6-BP INS
GRCh37/hg19 2p23.1(chr2:31758677-31805700)
HSD17B3, IVS3AS, G-C, -1
NC_000002.11:g.31757164_31770106del12943insCA
NC_000002.12:g.(?_31524586)_(31580971_?)del
NC_000023.10:g.(?_66905852)_(66905968_?)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_000044.4(AR):c.172_174(38_?) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000044.6(AR):c.1185C>A (p.Tyr395Ter) rs1555969807
NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
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.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1688G>A (p.Cys563Tyr) rs1555982860
NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)
NM_000044.6(AR):c.1732G>A (p.Gly578Arg) rs137852596
NM_000044.6(AR):c.1739G>A (p.Cys580Tyr) rs137852586
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.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.1768+2T>C rs1555982894
NM_000044.6(AR):c.1771A>T (p.Lys591Ter) rs137852566
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569
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.1846C>T (p.Arg616Cys) rs1555990485
NM_000044.6(AR):c.1847G>A (p.Arg616His) rs754201976
NM_000044.6(AR):c.1888del (p.Arg630fs) rs1555995750
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.2033T>C (p.Leu678Pro) rs137852579
NM_000044.6(AR):c.2044G>A (p.Glu682Lys) rs1555995816
NM_000044.6(AR):c.2069A>C (p.His690Pro) rs137852599
NM_000044.6(AR):c.2086G>A (p.Asp696Asn) rs1555995840
NM_000044.6(AR):c.2104C>T (p.Leu702Phe) rs1555995851
NM_000044.6(AR):c.2117A>G (p.Asn706Ser) rs925822435
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.214C>T (p.Gln72Ter) rs1555969512
NM_000044.6(AR):c.2155T>C (p.Trp719Arg) rs1555995865
NM_000044.6(AR):c.2157G>A (p.Trp719Ter) rs137852563
NM_000044.6(AR):c.2171C>T (p.Pro724Leu) rs1555995877
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.217C>T (p.Gln73Ter) rs1199988820
NM_000044.6(AR):c.220C>T (p.Gln74Ter) rs886041129
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.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2258G>A (p.Arg753Gln) rs1057523747
NM_000044.6(AR):c.2266del (p.Thr756fs) rs1555996855
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.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2299C>G (p.Pro767Ala) rs1555996867
NM_000044.6(AR):c.2318+1G>C rs1569314508
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>A (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2343G>T (p.Met781Ile) rs137852589
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
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.2395C>G (p.Gln799Glu) rs137852591
NM_000044.6(AR):c.2423T>C (p.Met808Thr) rs137852592
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2449+5G>T
NM_000044.6(AR):c.2450-6C>G rs754515125
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
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)
NM_000044.6(AR):c.2546dup (p.Asn849fs)
NM_000044.6(AR):c.2562_2563del (p.Arg855fs) rs1555997799
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.2571C>G (p.Phe857Leu) rs137852598
NM_000044.6(AR):c.2593G>A (p.Asp865Asn) rs1555997810
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.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2613del (p.Arg872fs) rs1555998085
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.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
NM_000044.6(AR):c.2683_2685ATG[1] (p.Met896del) rs1555998102
NM_000044.6(AR):c.268C>T (p.Gln90Ter) rs1555969545
NM_000044.6(AR):c.271C>T (p.Gln91Ter)
NM_000044.6(AR):c.2720_2721del (p.Ile907fs) rs1555998114
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.321C>A (p.Tyr107Ter) rs1481151440
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797
NM_000044.6(AR):c.4G>A (p.Glu2Lys) rs104894742
NM_000044.6(AR):c.521T>G (p.Leu174Ter) rs137852590
NM_000044.6(AR):c.743G>T (p.Gly248Val) rs1555969682
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs)
NM_000044.6(AR):c.796dup (p.Asp266fs) rs1555969694
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000044.6(AR):c.865G>T (p.Glu289Ter) rs750324117
NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) rs61754278
NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) rs1060499582
NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) rs756135168
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) rs104894138
NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) rs104894135
NM_000197.1(HSD17B3):c.239G>A rs119481075
NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr) rs119481078
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000197.2(HSD17B3):c.277+4A>T rs201115371
NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser) rs119481079
NM_000197.2(HSD17B3):c.607-1G>A rs730880305
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val) rs119481076
NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu) rs28939085
NM_000197.2(HSD17B3):c.703A>G (p.Met235Val) rs119481074
NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr) rs119481080
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_000348.3(SRD5A2):c.[548-9T>G];[680G>A]
NM_000348.3(SRD5A2):c.[680G>A];[694C>G]
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858
NM_000348.4(SRD5A2):c.164T>A (p.Leu55Gln) rs121434245
NM_000348.4(SRD5A2):c.169G>C (p.Glu57Gln) rs750444774
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter) rs9332960
NM_000348.4(SRD5A2):c.205G>T (p.Ala69Ser) rs1553329443
NM_000348.4(SRD5A2):c.211C>T (p.Gln71Ter) rs1060499834
NM_000348.4(SRD5A2):c.218del (p.Leu73fs) rs1553329427
NM_000348.4(SRD5A2):c.271T>C (p.Tyr91His) rs201175894
NM_000348.4(SRD5A2):c.271T>G (p.Tyr91Asp) rs201175894
NM_000348.4(SRD5A2):c.282-2A>G rs1340425455
NM_000348.4(SRD5A2):c.307C>T (p.Arg103Ter) rs267599353
NM_000348.4(SRD5A2):c.344G>A (p.Gly115Asp) rs121434246
NM_000348.4(SRD5A2):c.377A>G (p.Gln126Arg) rs368386747
NM_000348.4(SRD5A2):c.468_470del (p.Met157del) rs587776566
NM_000348.4(SRD5A2):c.534C>A (p.Tyr178Ter) rs1200261940
NM_000348.4(SRD5A2):c.547G>A (p.Gly183Ser) rs121434247
NM_000348.4(SRD5A2):c.578A>G (p.Asn193Ser) rs763296857
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.586G>C (p.Gly196Arg) rs121434250
NM_000348.4(SRD5A2):c.591G>T (p.Glu197Asp) rs121434253
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_000348.4(SRD5A2):c.59T>C (p.Leu20Pro) rs761824859
NM_000348.4(SRD5A2):c.607G>A (p.Gly203Ser) rs9332961
NM_000348.4(SRD5A2):c.620C>A (p.Ala207Asp) rs767564684
NM_000348.4(SRD5A2):c.635C>G (p.Pro212Arg) rs121434252
NM_000348.4(SRD5A2):c.679C>T (p.Arg227Ter) rs121434248
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg) rs121434251
NM_000348.4(SRD5A2):c.704A>T (p.Tyr235Phe) rs772283403
NM_000348.4(SRD5A2):c.729del (p.Lys244fs) rs1553323033
NM_000348.4(SRD5A2):c.736C>T (p.Arg246Trp) rs121434244
NM_000348.4(SRD5A2):c.737G>A (p.Arg246Gln) rs9332967
NM_000348.4(SRD5A2):c.753del (p.Phe252fs) rs587776567
NM_000349.3(STAR):c.125dup (p.Thr44fs) rs750549499
NM_000349.3(STAR):c.178+2dup rs1563268785
NM_000349.3(STAR):c.197_198CT[2] (p.Tyr68fs) rs1563268652
NM_000349.3(STAR):c.466-11T>A rs1053284504
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.545G>T (p.Arg182Leu) rs104894086
NM_000349.3(STAR):c.559G>A (p.Val187Met) rs104894089
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) rs104894090
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) rs387907235
NM_000349.3(STAR):c.64+1G>T rs765968701
NM_000349.3(STAR):c.650G>C (p.Arg217Thr) rs137852689
NM_000349.3(STAR):c.653C>T (p.Ala218Val) rs137852690
NM_000349.3(STAR):c.749G>A (p.Trp250Ter) rs104894087
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) rs104894085
NM_000781.3(CYP11A1):c.1057C>T (p.Arg353Trp) rs72547508
NM_000781.3(CYP11A1):c.1076C>T (p.Ala359Val) rs121912812
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.508_509del (p.Leu170fs) rs1567053134
NM_000781.3(CYP11A1):c.566C>T (p.Ala189Val) rs121912811
NM_000781.3(CYP11A1):c.665T>C (p.Leu222Pro) rs387906601
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) rs1563435458
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
NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001354.5(AKR1C2):c.666T>G (p.His222Gln)
NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
STAR, 1-BP DEL, 261T

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