ClinVar Miner

List of variants studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 806
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032656.4(DHX37):c.1294-38T>C rs10773130 0.94401
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) rs832583 0.77675
NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) rs832582 0.77671
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_032656.4(DHX37):c.2579-7T>C rs4606565 0.56718
NM_032656.4(DHX37):c.2695+12T>C rs12367953 0.56686
NM_032656.4(DHX37):c.2793A>G (p.Ala931=) rs4429156 0.56645
NM_032656.4(DHX37):c.2605A>G (p.Ser869Gly) rs4516060 0.56530
NM_032656.4(DHX37):c.2598G>A (p.Glu866=) rs4258464 0.56360
NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln) rs4447263 0.55494
NM_012082.4(ZFPM2):c.532+28227T>C rs2218279 0.51867
NM_032656.4(DHX37):c.2869-38G>A rs10773125 0.50743
NM_032656.4(DHX37):c.2046-6A>G rs4765007 0.50353
NM_032656.4(DHX37):c.738+13G>A rs4072887 0.39088
NM_032656.4(DHX37):c.288G>A (p.Met96Ile) rs11558556 0.36027
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_032656.4(DHX37):c.2578+17T>G rs11831506 0.27400
NM_032656.4(DHX37):c.2696-26G>A rs6488959 0.25621
NM_032656.4(DHX37):c.3195C>T (p.Ala1065=) rs4078216 0.20190
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.15144
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) rs11995760 0.11999
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) rs920628 0.11991
NM_005921.2(MAP3K1):c.3820-11A>G rs3736430 0.11208
NM_005921.2(MAP3K1):c.3667-13G>A rs16886463 0.08897
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=) rs3822625 0.07871
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) rs16873741 0.06184
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) rs16873732 0.05790
NM_005921.2(MAP3K1):c.482+10462A>G rs16886364 0.05783
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) rs1442320 0.05781
NM_005921.2(MAP3K1):c.483-18151A>G rs16886397 0.05776
NM_005921.2(MAP3K1):c.1687-46C>G rs16886448 0.05775
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) rs35998713 0.04956
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) rs2229882 0.04382
NM_021044.4(DHH):c.-255T>C rs59178045 0.03594
NM_021044.4(DHH):c.*87G>T rs75012285 0.03268
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) rs189140884 0.02295
NM_005921.2(MAP3K1):c.1644A>G (p.Gln548=) rs56225368 0.02279
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=) rs192120973 0.02279
NM_021044.4(DHH):c.*219G>A rs145466782 0.02062
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
NM_021044.4(DHH):c.-18C>T rs112818602 0.00944
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) rs185050655 0.00789
NM_005921.2(MAP3K1):c.2953_2955del (p.Thr985del) rs140733770 0.00788
NM_021044.4(DHH):c.543C>T (p.His181=) rs117527954 0.00783
NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=) rs2229883 0.00772
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) rs146423225 0.00541
NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) rs56279792 0.00530
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_005921.2(MAP3K1):c.3087C>T (p.Phe1029=) rs146112116 0.00373
NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=) rs55912465 0.00351
NM_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) rs202217256 0.00311
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.533-4A>T rs138466839 0.00296
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=) rs201198197 0.00284
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) rs182216711 0.00279
NM_005921.2(MAP3K1):c.2179+16T>G rs201491763 0.00271
NM_021044.4(DHH):c.*401G>T rs550262271 0.00253
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_021044.4(DHH):c.188C>G (p.Ala63Gly) rs142269288 0.00217
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_012082.4(ZFPM2):c.739+19G>A rs140283741 0.00160
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00149
NM_005921.2(MAP3K1):c.762C>T (p.Gly254=) rs199726815 0.00148
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) rs201439692 0.00097
NM_012082.4(ZFPM2):c.41-4C>A rs374926066 0.00091
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) rs920629 0.00079
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
NM_021044.4(DHH):c.*110G>C rs189970312 0.00073
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=) rs1053991933 0.00066
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) rs200643137 0.00066
NM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile) rs191385674 0.00060
NM_012082.4(ZFPM2):c.436G>C (p.Val146Leu) rs200168135 0.00059
NM_021044.4(DHH):c.1134T>A (p.Thr378=) rs144444357 0.00053
NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) rs1051867310 0.00052
NM_012082.4(ZFPM2):c.679A>G (p.Ile227Val) rs202204708 0.00049
NM_021044.4(DHH):c.228C>T (p.Asp76=) rs201597166 0.00048
NM_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg) rs181007123 0.00039
NM_003140.3(SRY):c.465C>T (p.Ser155=) rs11575897 0.00037
NM_005921.2(MAP3K1):c.2598C>T (p.Ala866=) rs201679580 0.00035
NM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu) rs200671886 0.00034
NM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn) rs201707218 0.00029
NM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys) rs34248551 0.00027
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) rs200972094 0.00025
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile) rs201729935 0.00024
NM_012082.4(ZFPM2):c.200-8T>G rs573002259 0.00023
NM_021044.4(DHH):c.-254G>A rs577191826 0.00023
NM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser) rs201106296 0.00022
NM_005921.2(MAP3K1):c.3783A>G (p.Gln1261=) rs201159436 0.00021
NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) rs371578161 0.00021
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) rs368201603 0.00019
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) rs200049316 0.00019
NM_021044.4(DHH):c.234G>A (p.Val78=) rs370468314 0.00018
NM_005921.2(MAP3K1):c.576C>T (p.Thr192=) rs372106846 0.00017
NM_005921.2(MAP3K1):c.894A>G (p.Pro298=) rs372575885 0.00017
NM_021044.4(DHH):c.*159G>T rs886049489 0.00016
NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln) rs201579608 0.00015
NM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala) rs199535268 0.00015
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_005921.2(MAP3K1):c.2757A>G (p.Lys919=) rs200375119 0.00014
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) rs201845067 0.00014
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) rs371910925 0.00014
NM_021044.4(DHH):c.192G>A (p.Glu64=) rs201464596 0.00014
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile) rs367884272 0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_005921.2(MAP3K1):c.2665G>C (p.Val889Leu) rs56228802 0.00011
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) rs557606535 0.00011
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) rs1034200170 0.00011
NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=) rs200002039 0.00011
NM_012082.4(ZFPM2):c.442A>G (p.Met148Val) rs370456245 0.00011
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) rs200078723 0.00010
NM_021044.4(DHH):c.565+13G>A rs369743278 0.00010
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) rs376235097 0.00009
NM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly) rs371244942 0.00009
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) rs764525244 0.00008
NM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys) rs371546027 0.00008
NM_005921.2(MAP3K1):c.1131A>G (p.Arg377=) rs55818365 0.00007
NM_005921.2(MAP3K1):c.2479G>A (p.Val827Ile) rs763246417 0.00007
NM_005921.2(MAP3K1):c.1921A>G (p.Met641Val) rs759485701 0.00006
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00006
NM_005921.2(MAP3K1):c.3242T>A (p.Met1081Lys) rs754640057 0.00006
NM_012082.4(ZFPM2):c.1164C>T (p.Ser388=) rs376392532 0.00006
NM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu) rs367893066 0.00006
NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=) rs369522665 0.00006
NM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro) rs368572530 0.00006
NM_021044.4(DHH):c.-53G>A rs913605931 0.00006
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 0.00005
NM_005921.2(MAP3K1):c.3667-4G>T rs552563402 0.00005
NM_005921.2(MAP3K1):c.917G>A (p.Arg306His) rs375262853 0.00005
NM_012082.4(ZFPM2):c.2262A>G (p.Pro754=) rs369014203 0.00005
NM_012082.4(ZFPM2):c.444G>C (p.Met148Ile) rs373855468 0.00005
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_003140.3(SRY):c.53G>A (p.Ser18Asn) rs104894971 0.00004
NM_005921.2(MAP3K1):c.3266C>G (p.Ser1089Cys) rs755658722 0.00004
NM_005921.2(MAP3K1):c.3667-7T>C rs117348142 0.00004
NM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu) rs753602172 0.00004
NM_012082.4(ZFPM2):c.357A>G (p.Gln119=) rs556443661 0.00004
NM_012082.4(ZFPM2):c.384G>A (p.Pro128=) rs199814804 0.00004
NM_012082.4(ZFPM2):c.72A>G (p.Glu24=) rs1811743355 0.00004
NM_032656.4(DHX37):c.1460G>A (p.Arg487His) rs779613772 0.00004
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_005921.2(MAP3K1):c.163G>A (p.Ala55Thr) rs769918068 0.00003
NM_005921.2(MAP3K1):c.2617G>A (p.Val873Ile) rs149242419 0.00003
NM_005921.2(MAP3K1):c.3070A>C (p.Lys1024Gln) rs780666910 0.00003
NM_005921.2(MAP3K1):c.4107T>C (p.Asp1369=) rs373835578 0.00003
NM_005921.2(MAP3K1):c.4128A>C (p.Leu1376=) rs113150610 0.00003
NM_012082.4(ZFPM2):c.1218C>T (p.Asp406=) rs377293678 0.00003
NM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met) rs771923819 0.00003
NM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu) rs200311467 0.00003
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln) rs773843701 0.00003
NM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met) rs530517993 0.00003
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=) rs1181745433 0.00003
NM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn) rs201644250 0.00003
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val) rs779273741 0.00003
NM_012082.4(ZFPM2):c.421-10C>A rs761799802 0.00003
NM_012082.4(ZFPM2):c.421-5T>C rs552410913 0.00003
NM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys) rs373471482 0.00003
NM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala) rs953556550 0.00003
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_021044.4(DHH):c.367C>T (p.Leu123=) rs760627027 0.00003
NM_021044.4(DHH):c.80G>A (p.Arg27Gln) rs779682957 0.00003
NM_021044.4(DHH):c.926G>T (p.Arg309Leu) rs886049490 0.00003
NM_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
NM_005921.2(MAP3K1):c.1035+12C>T rs773590377 0.00002
NM_005921.2(MAP3K1):c.1605A>G (p.Gln535=) rs56232761 0.00002
NM_005921.2(MAP3K1):c.548G>A (p.Arg183Gln) rs1454725137 0.00002
NM_012082.4(ZFPM2):c.1866A>G (p.Gln622=) rs536037180 0.00002
NM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile) rs756076552 0.00002
NM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser) rs374095734 0.00002
NM_012082.4(ZFPM2):c.2393A>G (p.His798Arg) rs544936088 0.00002
NM_012082.4(ZFPM2):c.240G>T (p.Gly80=) rs765866053 0.00002
NM_012082.4(ZFPM2):c.2651G>A (p.Arg884His) rs747995106 0.00002
NM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu) rs747010827 0.00002
NM_021044.4(DHH):c.-256C>G rs563591024 0.00002
NM_021044.4(DHH):c.536G>A (p.Arg179His) rs768138247 0.00002
NM_021044.4(DHH):c.860C>A (p.Ala287Glu) rs1033987082 0.00002
NM_000233.4(LHCGR):c.47T>A (p.Leu16Gln) rs4539842 0.00001
NM_000475.5(NR0B1):c.1121G>A (p.Ser374Asn) rs1213986618 0.00001
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000475.5(NR0B1):c.697G>A (p.Ala233Thr) rs761762294 0.00001
NM_000475.5(NR0B1):c.90A>G (p.Pro30=) rs777399647 0.00001
NM_003140.3(SRY):c.251G>C (p.Arg84Thr) rs770778716 0.00001
NM_003140.3(SRY):c.270C>G (p.Ile90Met) rs104894959 0.00001
NM_004959.5(NR5A1):c.250C>T (p.Arg84Cys) rs1832458239 0.00001
NM_005921.2(MAP3K1):c.1015C>T (p.Arg339Trp) rs373572109 0.00001
NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser) rs374113323 0.00001
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala) rs563304338 0.00001
NM_005921.2(MAP3K1):c.3828T>C (p.Tyr1276=) rs372801625 0.00001
NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=) rs1478914246 0.00001
NM_005921.2(MAP3K1):c.4258-5T>C rs761483754 0.00001
NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala) rs1356600233 0.00001
NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys) rs768329767 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_012082.4(ZFPM2):c.1014C>T (p.Thr338=) rs141238169 0.00001
NM_012082.4(ZFPM2):c.1071T>C (p.His357=) rs1438808914 0.00001
NM_012082.4(ZFPM2):c.1161T>C (p.Pro387=) rs1295146665 0.00001
NM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu) rs768944942 0.00001
NM_012082.4(ZFPM2):c.1851G>A (p.Glu617=) rs376766358 0.00001
NM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu) rs765282505 0.00001
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=) rs1391767231 0.00001
NM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys) rs778808844 0.00001
NM_012082.4(ZFPM2):c.2688G>A (p.Pro896=) rs1434631824 0.00001
NM_012082.4(ZFPM2):c.2718T>C (p.Asp906=) rs1456578169 0.00001
NM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys) rs908430101 0.00001
NM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu) rs759084301 0.00001
NM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser) rs779361639 0.00001
NM_012082.4(ZFPM2):c.302-5T>C rs763335389 0.00001
NM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=) rs534751136 0.00001
NM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=) rs775570126 0.00001
NM_012082.4(ZFPM2):c.57C>T (p.Ala19=) rs186003344 0.00001
NM_012082.4(ZFPM2):c.582G>A (p.Glu194=) rs758169109 0.00001
NM_012082.4(ZFPM2):c.660T>C (p.Pro220=) rs1439864085 0.00001
NM_012082.4(ZFPM2):c.740-19C>T rs751110244 0.00001
NM_012082.4(ZFPM2):c.822T>C (p.Ser274=) rs777185799 0.00001
NM_012082.4(ZFPM2):c.846G>A (p.Pro282=) rs916094617 0.00001
NM_021044.4(DHH):c.*427C>T rs1389748240 0.00001
NM_021044.4(DHH):c.135C>T (p.Tyr45=) rs765506943 0.00001
NM_021044.4(DHH):c.174C>A (p.Gly58=) rs376829299 0.00001
NM_021044.4(DHH):c.217C>G (p.Arg73Gly) rs754182591 0.00001
NM_021044.4(DHH):c.485T>C (p.Leu162Pro) rs111033589 0.00001
NM_021044.4(DHH):c.630C>A (p.Ser210Arg) rs764922471 0.00001
NM_021044.4(DHH):c.726C>T (p.Phe242=) rs886049491 0.00001
NM_021951.3(DMRT1):c.967G>A (p.Val323Ile) rs746758951 0.00001
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) rs1384892917 0.00001
GRCh37/hg19 16q24.3(chr16:89845820-89913583)
NC_000008.10:g.(?_106331170)_(106674812_?)dup
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_124482420)_(124482928_?)del
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.11:g.(?_71475000)_(71611000_?)del
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.11:g.(?_30304206_30309390_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NC_000024.10:g.2787734C>T rs2124486449
NC_000024.10:g.2792795A>G
NC_000024.10:g.2792798G>A
NC_000024.9:g.(?_2654792)_(2655895_?)dup
NM_000044.6(AR):c.1462C>T (p.Gln488Ter) rs1929774367
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1022A>G (p.His341Arg)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.105G>A (p.Val35=)
NM_000475.5(NR0B1):c.1062C>A (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>G (p.Ser354=)
NM_000475.5(NR0B1):c.1062C>T (p.Ser354=)
NM_000475.5(NR0B1):c.1065C>T (p.Ala355=)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1103G>T (p.Cys368Phe)
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1142T>C (p.Leu381Pro) rs104894899
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1157T>G (p.Leu386Arg)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1168+13dup
NM_000475.5(NR0B1):c.1168+1_1168+20del rs1555972943
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1168+7G>T
NM_000475.5(NR0B1):c.1169-10C>T
NM_000475.5(NR0B1):c.1169-8C>A
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1179C>T (p.Gly393=)
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1198A>G (p.Ile400Val)
NM_000475.5(NR0B1):c.1218A>G (p.Gly406=)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000475.5(NR0B1):c.1231_1234del (p.Leu411fs) rs1569268070
NM_000475.5(NR0B1):c.1245C>A (p.Thr415=)
NM_000475.5(NR0B1):c.1245C>G (p.Thr415=)
NM_000475.5(NR0B1):c.1248G>A (p.Arg416=)
NM_000475.5(NR0B1):c.1254G>A (p.Thr418=)
NM_000475.5(NR0B1):c.1257C>T (p.His419=)
NM_000475.5(NR0B1):c.126G>C (p.Ser42=)
NM_000475.5(NR0B1):c.1279A>G (p.Ile427Val)
NM_000475.5(NR0B1):c.1281C>T (p.Ile427=)
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.1299T>C (p.Leu433=)
NM_000475.5(NR0B1):c.1308G>A (p.Leu436=) rs2147004349
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1354A>G (p.Ile452Val)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.1398C>G (p.Leu466=)
NM_000475.5(NR0B1):c.144G>C (p.Gly48=)
NM_000475.5(NR0B1):c.151A>C (p.Arg51=)
NM_000475.5(NR0B1):c.159G>T (p.Gly53=)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (p.Leu54=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.162G>T (p.Leu54=)
NM_000475.5(NR0B1):c.171G>C (p.Gly57=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
NM_000475.5(NR0B1):c.194G>T (p.Arg65Leu) rs1926600775
NM_000475.5(NR0B1):c.198C>T (p.Cys66=)
NM_000475.5(NR0B1):c.210T>C (p.Gly70=)
NM_000475.5(NR0B1):c.210T>G (p.Gly70=)
NM_000475.5(NR0B1):c.213A>G (p.Lys71=)
NM_000475.5(NR0B1):c.223C>A (p.Arg75=)
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.227A>G (p.Gln76Arg)
NM_000475.5(NR0B1):c.229G>C (p.Gly77Arg)
NM_000475.5(NR0B1):c.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.276G>C (p.Ala92=)
NM_000475.5(NR0B1):c.276G>T (p.Ala92=)
NM_000475.5(NR0B1):c.279A>T (p.Ala93=)
NM_000475.5(NR0B1):c.281C>A (p.Pro94Gln)
NM_000475.5(NR0B1):c.291C>T (p.Pro97=)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.300G>C (p.Thr100=)
NM_000475.5(NR0B1):c.307_308delinsTT (p.Pro103Leu) rs1569269085
NM_000475.5(NR0B1):c.308C>G (p.Pro103Arg)
NM_000475.5(NR0B1):c.30C>T (p.Gly10=)
NM_000475.5(NR0B1):c.318C>G (p.Gly106=)
NM_000475.5(NR0B1):c.324G>T (p.Ser108=)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.357G>T (p.Gly119=)
NM_000475.5(NR0B1):c.360T>G (p.Leu120=)
NM_000475.5(NR0B1):c.363G>A (p.Pro121=)
NM_000475.5(NR0B1):c.366T>C (p.Gly122=)
NM_000475.5(NR0B1):c.367G>A (p.Gly123Arg)
NM_000475.5(NR0B1):c.369G>A (p.Gly123=)
NM_000475.5(NR0B1):c.375C>T (p.Pro125=)
NM_000475.5(NR0B1):c.381A>G (p.Ala127=)
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.389A>G (p.Tyr130Cys)
NM_000475.5(NR0B1):c.395G>A (p.Cys132Tyr)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
NM_000475.5(NR0B1):c.447G>C (p.Leu149Phe)
NM_000475.5(NR0B1):c.44A>G (p.Asn15Ser)
NM_000475.5(NR0B1):c.471C>T (p.His157=)
NM_000475.5(NR0B1):c.480G>A (p.Pro160=)
NM_000475.5(NR0B1):c.489C>G (p.Pro163=)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.521G>C (p.Arg174Pro)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.536A>T (p.Gln179Leu)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
NM_000475.5(NR0B1):c.563C>T (p.Pro188Leu)
NM_000475.5(NR0B1):c.568G>C (p.Gly190Arg)
NM_000475.5(NR0B1):c.579G>A (p.Thr193=)
NM_000475.5(NR0B1):c.582G>C (p.Ala194=) rs1275730944
NM_000475.5(NR0B1):c.582G>T (p.Ala194=)
NM_000475.5(NR0B1):c.585T>C (p.Leu195=)
NM_000475.5(NR0B1):c.593_594delinsAA (p.Arg198Gln) rs1569268891
NM_000475.5(NR0B1):c.603T>C (p.Phe201=)
NM_000475.5(NR0B1):c.607G>A (p.Gly203Ser)
NM_000475.5(NR0B1):c.624G>A (p.Gln208=)
NM_000475.5(NR0B1):c.642C>T (p.Tyr214=)
NM_000475.5(NR0B1):c.645C>T (p.Cys215=)
NM_000475.5(NR0B1):c.654G>A (p.Thr218=)
NM_000475.5(NR0B1):c.654G>C (p.Thr218=)
NM_000475.5(NR0B1):c.654G>T (p.Thr218=)
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.667G>A (p.Ala223Thr)
NM_000475.5(NR0B1):c.669G>T (p.Ala223=)
NM_000475.5(NR0B1):c.685G>A (p.Glu229Lys)
NM_000475.5(NR0B1):c.690G>C (p.Arg230=)
NM_000475.5(NR0B1):c.693G>A (p.Pro231=)
NM_000475.5(NR0B1):c.696G>A (p.Arg232=)
NM_000475.5(NR0B1):c.698C>T (p.Ala233Val)
NM_000475.5(NR0B1):c.699C>T (p.Ala233=)
NM_000475.5(NR0B1):c.69G>A (p.Thr23=)
NM_000475.5(NR0B1):c.6G>A (p.Ala2=)
NM_000475.5(NR0B1):c.6G>C (p.Ala2=)
NM_000475.5(NR0B1):c.702C>T (p.Pro234=)
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.740C>A (p.Ala247Glu)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.762C>T (p.Val254=)
NM_000475.5(NR0B1):c.774C>T (p.Ala258=)
NM_000475.5(NR0B1):c.777A>G (p.Ser259=)
NM_000475.5(NR0B1):c.780G>A (p.Ala260=)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.800G>C (p.Arg267Pro) rs104894888
NM_000475.5(NR0B1):c.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.858G>A (p.Leu286=)
NM_000475.5(NR0B1):c.885C>T (p.Leu295=)
NM_000475.5(NR0B1):c.890T>C (p.Leu297Pro) rs104894907
NM_000475.5(NR0B1):c.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.899C>T (p.Ala300Val)
NM_000475.5(NR0B1):c.8_9delinsAA (p.Gly3Glu)
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000475.5(NR0B1):c.936G>A (p.Ser312=)
NM_000475.5(NR0B1):c.939G>C (p.Glu313Asp)
NM_000475.5(NR0B1):c.966C>T (p.Thr322=)
NM_000475.5(NR0B1):c.969C>A (p.Thr323=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.981G>C (p.Glu327Asp)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.989G>A (p.Gly330Asp)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_000475.5(NR0B1):c.9C>A (p.Gly3=)
NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys) rs1585684790
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001393392.1(AKR1C2):c.827_828del (p.Arg276fs)
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_001818.5(AKR1C4):c.85-106G>T rs398122815
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) rs104894975
NM_003140.3(SRY):c.145G>T (p.Gly49Ter)
NM_003140.3(SRY):c.169C>T (p.Gln57Ter) rs1603308308
NM_003140.3(SRY):c.174_175insC (p.Arg59fs)
NM_003140.3(SRY):c.178G>C (p.Val60Leu) rs104894957
NM_003140.3(SRY):c.192G>A (p.Met64Ile) rs104894969
NM_003140.3(SRY):c.203T>C (p.Ile68Thr) rs104894968
NM_003140.3(SRY):c.209G>A (p.Trp70Ter) rs104894965
NM_003140.3(SRY):c.212C>A (p.Ser71Tyr) rs2124486256
NM_003140.3(SRY):c.226C>T (p.Arg76Cys) rs2124486234
NM_003140.3(SRY):c.227G>T (p.Arg76Leu) rs1057519627
NM_003140.3(SRY):c.248C>A (p.Pro83His) rs2051123246
NM_003140.3(SRY):c.253A>G (p.Met85Val) rs2124486176
NM_003140.3(SRY):c.263C>A (p.Ser88Ter) rs1556370558
NM_003140.3(SRY):c.263C>G (p.Ser88Ter)
NM_003140.3(SRY):c.264dup (p.Glu89fs) rs1556370556
NM_003140.3(SRY):c.266A>C (p.Glu89Ala) rs1556370554
NM_003140.3(SRY):c.272G>A (p.Ser91Asn)
NM_003140.3(SRY):c.274A>T (p.Lys92Ter) rs104894970
NM_003140.3(SRY):c.277C>T (p.Gln93Ter) rs104894958
NM_003140.3(SRY):c.283G>C (p.Gly95Arg) rs104894974
NM_003140.3(SRY):c.284G>A (p.Gly95Glu) rs104894972
NM_003140.3(SRY):c.288C>G (p.Tyr96Ter) rs1556370548
NM_003140.3(SRY):c.317A>T (p.Lys106Ile) rs104894964
NM_003140.3(SRY):c.320G>A (p.Trp107Ter) rs104894967
NM_003140.3(SRY):c.321G>T (p.Trp107Cys) rs2051122910
NM_003140.3(SRY):c.324del (p.Phe109fs) rs606231179
NM_003140.3(SRY):c.326T>C (p.Phe109Ser) rs104894956
NM_003140.3(SRY):c.331C>T (p.Gln111Ter) rs1556370543
NM_003140.3(SRY):c.337G>A (p.Ala113Thr) rs104894966
NM_003140.3(SRY):c.339A>G (p.Ala113=) rs773247144
NM_003140.3(SRY):c.364_367del (p.Glu122fs) rs606231178
NM_003140.3(SRY):c.380A>G (p.Tyr127Cys) rs104894973
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe) rs104894973
NM_003140.3(SRY):c.397C>T (p.Arg133Trp) rs104894976
NM_003140.3(SRY):c.472C>T (p.Gln158Ter)
NM_003140.3(SRY):c.4C>T (p.Gln2Ter) rs104894977
NM_003140.3(SRY):c.570del (p.Ser191fs) rs1603308285
NM_003140.3(SRY):c.589C>A (p.Arg197Ser) rs756606002
NM_003140.3(SRY):c.89G>T (p.Arg30Ile) rs1556370576
NM_004959.5(NR5A1):c.1048C>T (p.Arg350Trp) rs754336683
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1073T>C (p.Leu358Pro) rs2131277648
NM_004959.5(NR5A1):c.1090G>T (p.Asp364Tyr) rs2131277629
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.1138+5G>A rs1832300085
NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter) rs145936761
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) rs863224904
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.140A>G (p.Tyr47Cys) rs2131289790
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) rs775441984
NM_004959.5(NR5A1):c.15C>A (p.Tyr5Ter)
NM_004959.5(NR5A1):c.164G>A (p.Cys55Tyr)
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter) rs2131290040
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.236_238del (p.Arg79del) rs1554721859
NM_004959.5(NR5A1):c.251G>A (p.Arg84His) rs375469069
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
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.284T>C (p.Phe95Ser) rs2131287358
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs) rs1554721883
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.44T>C (p.Val15Ala) rs2131290009
NM_004959.5(NR5A1):c.455_536del (p.Leu152fs) rs1588621944
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.616C>A (p.Gln206Lys)
NM_004959.5(NR5A1):c.61T>G (p.Ser21Ala)
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.721C>T (p.Arg241Trp) rs1832445795
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_004959.5(NR5A1):c.89G>A (p.Cys30Tyr) rs2131289962
NM_004959.5(NR5A1):c.937C>T (p.Arg313Cys) rs1057517779
NM_004959.5(NR5A1):c.938G>T (p.Arg313Leu) rs1554721235
NM_004959.5(NR5A1):c.97T>C (p.Cys33Arg) rs1832496590
NM_004959.5(NR5A1):c.983G>T (p.Gly328Val) rs2131279852
NM_004959.5(NR5A1):c.990G>A (p.Glu330=) rs1588618614
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) rs121908256
NM_005189.3(CBX2):c.264del (p.Cys89fs) rs1057519060
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) rs121908255
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) rs1554034036
NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile) rs1747647344
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
NM_005921.2(MAP3K1):c.138G>T (p.Glu46Asp)
NM_005921.2(MAP3K1):c.13G>C (p.Ala5Pro)
NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) rs1579768504
NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)
NM_005921.2(MAP3K1):c.161G>A (p.Arg54Gln)
NM_005921.2(MAP3K1):c.1631A>T (p.Tyr544Phe)
NM_005921.2(MAP3K1):c.1666T>G (p.Leu556Val) rs763710987
NM_005921.2(MAP3K1):c.170GGC[5] (p.Arg60dup) rs746070735
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) rs1131692186
NM_005921.2(MAP3K1):c.1782C>G (p.Ala594=)
NM_005921.2(MAP3K1):c.1801G>A (p.Glu601Lys)
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.1913T>G (p.Val638Gly)
NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) rs886041049
NM_005921.2(MAP3K1):c.1926C>A (p.Val642=) rs867527029
NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) rs1579775153
NM_005921.2(MAP3K1):c.1985T>C (p.Leu662Pro)
NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)
NM_005921.2(MAP3K1):c.2013G>A (p.Ala671=)
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)
NM_005921.2(MAP3K1):c.2022C>G (p.Ile674Met)
NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) rs1554035463
NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.2370-17A>G
NM_005921.2(MAP3K1):c.2420A>G (p.Asn807Ser)
NM_005921.2(MAP3K1):c.2539A>G (p.Thr847Ala)
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)
NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser) rs142968004
NM_005921.2(MAP3K1):c.2702C>G (p.Ser901Cys)
NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del) rs1748225593
NM_005921.2(MAP3K1):c.2824ACA[10] (p.Thr948_Thr949dup) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[4] (p.Thr946_Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)
NM_005921.2(MAP3K1):c.2864T>C (p.Met955Thr)
NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)
NM_005921.2(MAP3K1):c.311G>A (p.Gly104Asp)
NM_005921.2(MAP3K1):c.3133G>C (p.Val1045Leu)
NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=) rs918712593
NM_005921.2(MAP3K1):c.3212G>T (p.Ser1071Ile)
NM_005921.2(MAP3K1):c.3275A>G (p.Asp1092Gly)
NM_005921.2(MAP3K1):c.331C>T (p.Pro111Ser)
NM_005921.2(MAP3K1):c.3416C>T (p.Ser1139Phe)
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)
NM_005921.2(MAP3K1):c.3608C>G (p.Pro1203Arg)
NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=) rs1554035881
NM_005921.2(MAP3K1):c.361G>A (p.Gly121Ser)
NM_005921.2(MAP3K1):c.3667-4G>A rs552563402
NM_005921.2(MAP3K1):c.3743A>G (p.Gln1248Arg)
NM_005921.2(MAP3K1):c.3774T>C (p.Tyr1258=)
NM_005921.2(MAP3K1):c.3819+9C>G
NM_005921.2(MAP3K1):c.3846T>G (p.Ser1282=) rs375842337
NM_005921.2(MAP3K1):c.3964T>G (p.Phe1322Val)
NM_005921.2(MAP3K1):c.4074G>A (p.Ser1358=)
NM_005921.2(MAP3K1):c.4092A>G (p.Gln1364=)
NM_005921.2(MAP3K1):c.4114+10C>G
NM_005921.2(MAP3K1):c.4278T>C (p.Tyr1426=) rs547649904
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=) rs1211934332
NM_005921.2(MAP3K1):c.4318A>G (p.Ile1440Val)
NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) rs559360433
NM_005921.2(MAP3K1):c.4415C>T (p.Ser1472Leu) rs776167103
NM_005921.2(MAP3K1):c.4416G>T (p.Ser1472=) rs201067455
NM_005921.2(MAP3K1):c.4445G>A (p.Arg1482Gln)
NM_005921.2(MAP3K1):c.458C>T (p.Pro153Leu) rs576080629
NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)
NM_005921.2(MAP3K1):c.499A>G (p.Lys167Glu)
NM_005921.2(MAP3K1):c.536G>A (p.Arg179His)
NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly) rs1579750361
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.5CGG[5] (p.Ala5dup) rs779149827
NM_005921.2(MAP3K1):c.5CGG[6] (p.Ala5_Gly6insAlaAla)
NM_005921.2(MAP3K1):c.633+815T>C rs1017226
NM_005921.2(MAP3K1):c.634-8T>A rs1131692053
NM_005921.2(MAP3K1):c.786G>T (p.Val262=)
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) rs1581198964
NM_005921.2(MAP3K1):c.89C>A (p.Ala30Asp) rs971549264
NM_005921.2(MAP3K1):c.916C>T (p.Arg306Cys)
NM_005921.2(MAP3K1):c.959A>G (p.Gln320Arg)
NM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)
NM_012082.4(ZFPM2):c.1110C>T (p.Phe370=) rs755422326
NM_012082.4(ZFPM2):c.1155T>C (p.His385=)
NM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)
NM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) rs606231252
NM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro) rs1586283411
NM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) rs374581095
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)
NM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)
NM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro) rs1586283783
NM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)
NM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=) rs2131177786
NM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=) rs1186450406
NM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg) rs1409008207
NM_012082.4(ZFPM2):c.1641G>A (p.Gly547=) rs1586284129
NM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=) rs2131178493
NM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) rs533177469
NM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) rs763555819
NM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)
NM_012082.4(ZFPM2):c.1894T>C (p.Leu632=) rs2131179002
NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)
NM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp) rs1404513559
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)
NM_012082.4(ZFPM2):c.2096A>C (p.His699Pro) rs368486644
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) rs139368368
NM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser) rs1554583195
NM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)
NM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)
NM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu) rs757882709
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)
NM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys) rs2131180275
NM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)
NM_012082.4(ZFPM2):c.2355C>T (p.His785=)
NM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala) rs1563574497
NM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)
NM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)
NM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)
NM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly) rs2131181158
NM_012082.4(ZFPM2):c.2562C>T (p.His854=)
NM_012082.4(ZFPM2):c.261G>A (p.Pro87=)
NM_012082.4(ZFPM2):c.261G>T (p.Pro87=) rs755810063
NM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)
NM_012082.4(ZFPM2):c.2712C>T (p.Ser904=) rs2131181789
NM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser) rs771987459
NM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)
NM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)
NM_012082.4(ZFPM2):c.302-4G>A rs372818742
NM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)
NM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)
NM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)
NM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu) rs1814096724
NM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)
NM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)
NM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu) rs1815131947
NM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)
NM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp) rs149688628
NM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)
NM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)
NM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly) rs1554583419
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)
NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)
NM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)
NM_012082.4(ZFPM2):c.364G>T (p.Val122Leu) rs772114579
NM_012082.4(ZFPM2):c.40+11G>C
NM_012082.4(ZFPM2):c.41-10C>G
NM_012082.4(ZFPM2):c.420+15C>T
NM_012082.4(ZFPM2):c.420+16G>A
NM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)
NM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser) rs2131136061
NM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)
NM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)
NM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)
NM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)
NM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)
NM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) rs1195263093
NM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)
NM_012082.4(ZFPM2):c.959A>G (p.His320Arg)
NM_012082.4(ZFPM2):c.964+4A>C
NM_012082.4(ZFPM2):c.965-11T>C rs189501457
NM_012082.4(ZFPM2):c.965-9TC[2] rs147661076
NM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)
NM_017780.4(CHD7):c.4388T>C (p.Leu1463Pro) rs2150779325
NM_021044.4(DHH):c.*154G>T rs1939259964
NM_021044.4(DHH):c.*65G>T rs990245573
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro) rs2120821285
NM_021044.4(DHH):c.1011del (p.Asn337fs) rs1565572949
NM_021044.4(DHH):c.1027T>C (p.Cys343Arg) rs867798393
NM_021044.4(DHH):c.1086del (p.Leu363fs) rs1592184934
NM_021044.4(DHH):c.1182A>G (p.Leu394=)
NM_021044.4(DHH):c.119T>C (p.Leu40Pro)
NM_021044.4(DHH):c.121G>T (p.Val41Leu)
NM_021044.4(DHH):c.151G>A (p.Gly51Ser)
NM_021044.4(DHH):c.25C>G (p.Pro9Ala)
NM_021044.4(DHH):c.286G>T (p.Asp96Tyr) rs1795489232
NM_021044.4(DHH):c.2T>C (p.Met1Thr) rs104894346
NM_021044.4(DHH):c.303+10G>A rs372590251
NM_021044.4(DHH):c.303+16C>G
NM_021044.4(DHH):c.303+17C>T
NM_021044.4(DHH):c.304-15T>C
NM_021044.4(DHH):c.304-17C>T
NM_021044.4(DHH):c.304-572_492dup
NM_021044.4(DHH):c.305G>A (p.Arg102His) rs149972274
NM_021044.4(DHH):c.324C>A (p.Asn108Lys) rs750761379
NM_021044.4(DHH):c.324C>T (p.Asn108=)
NM_021044.4(DHH):c.371G>A (p.Arg124Gln) rs1565573892
NM_021044.4(DHH):c.434G>C (p.Arg145Pro)
NM_021044.4(DHH):c.519G>T (p.Trp173Cys) rs1939296210
NM_021044.4(DHH):c.528C>A (p.Tyr176Ter) rs1565573786
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) rs1565573786
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) rs1939295073
NM_021044.4(DHH):c.566-8C>G
NM_021044.4(DHH):c.587C>A (p.Ala196Glu) rs755199142
NM_021044.4(DHH):c.602C>A (p.Pro201Gln)
NM_021044.4(DHH):c.605G>A (p.Gly202Glu) rs2120824377
NM_021044.4(DHH):c.634G>A (p.Glu212Lys) rs1480612338
NM_021044.4(DHH):c.656T>G (p.Leu219Arg) rs1939277254
NM_021044.4(DHH):c.681G>T (p.Ala227=)
NM_021044.4(DHH):c.799C>G (p.Leu267Val) rs2120822817
NM_021044.4(DHH):c.804G>A (p.Thr268=)
NM_021044.4(DHH):c.822T>G (p.Phe274Leu) rs1242767279
NM_021044.4(DHH):c.953G>C (p.Arg318Pro) rs1373354654
NM_021044.4(DHH):c.980C>A (p.Pro327Gln) rs1939268481
NM_021951.3(DMRT1):c.332G>T (p.Arg111Met) rs1057519638
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe) rs1954346640
NM_032656.4(DHX37):c.1877C>T (p.Ser626Leu) rs2135945152
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) rs1954336272
NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln) rs1954336215
NM_032656.4(DHX37):c.2331A>G (p.Thr777=) rs10773127
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
NM_032656.4(DHX37):c.911C>T (p.Thr304Met) rs1954619788

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.