ClinVar Miner

List of variants reported as likely benign for 46,XY complete gonadal dysgenesis by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 267
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012082.4(ZFPM2):c.1227G>T (p.Gln409His) rs201439692 0.00097
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
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_000475.5(NR0B1):c.222A>G (p.Pro74=) rs1337374469 0.00046
NM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg) rs181007123 0.00039
NM_005921.2(MAP3K1):c.2598C>T (p.Ala866=) rs201679580 0.00035
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.3049G>A (p.Gly1017Ser) rs201106296 0.00022
NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) rs376808920 0.00020
NM_005921.2(MAP3K1):c.576C>T (p.Thr192=) rs372106846 0.00017
NM_005921.2(MAP3K1):c.743G>A (p.Arg248Gln) rs201579608 0.00015
NM_012082.4(ZFPM2):c.285C>T (p.Asp95=) rs371910925 0.00014
NM_005921.2(MAP3K1):c.2571G>A (p.Met857Ile) rs367884272 0.00012
NM_012082.4(ZFPM2):c.1005A>G (p.Leu335=) rs1034200170 0.00011
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_000475.5(NR0B1):c.207C>T (p.Cys69=) rs1274628114 0.00008
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_012082.4(ZFPM2):c.1164C>T (p.Ser388=) rs376392532 0.00006
NM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=) rs369522665 0.00006
NM_000475.5(NR0B1):c.965C>G (p.Thr322Ser) rs776650491 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.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_000475.5(NR0B1):c.324G>A (p.Ser108=) rs147442403 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.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.2700C>T (p.Ser900=) rs1181745433 0.00003
NM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val) rs779273741 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.240G>T (p.Gly80=) rs765866053 0.00002
NM_000475.5(NR0B1):c.1209C>G (p.Leu403=) rs990602963 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_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.3828T>C (p.Tyr1276=) rs372801625 0.00001
NM_005921.2(MAP3K1):c.3957C>T (p.Tyr1319=) rs1478914246 0.00001
NM_005921.2(MAP3K1):c.4304T>C (p.Val1435Ala) rs1356600233 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.1851G>A (p.Glu617=) rs376766358 0.00001
NM_012082.4(ZFPM2):c.2532C>T (p.Thr844=) rs1391767231 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.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.174C>A (p.Gly58=) rs376829299 0.00001
NM_000475.5(NR0B1):c.1005C>T (p.Pro335=)
NM_000475.5(NR0B1):c.1020G>A (p.Gln340=)
NM_000475.5(NR0B1):c.1023C>T (p.His341=)
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
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.1119C>T (p.Ile373=)
NM_000475.5(NR0B1):c.1125C>T (p.Thr375=)
NM_000475.5(NR0B1):c.1151C>T (p.Thr384Ile)
NM_000475.5(NR0B1):c.1161T>C (p.Phe387=)
NM_000475.5(NR0B1):c.1164C>T (p.Asn388=)
NM_000475.5(NR0B1):c.1168+13dup
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.1179C>T (p.Gly393=)
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.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.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.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.160C>T (p.Leu54=)
NM_000475.5(NR0B1):c.162G>A (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.18C>T (p.His6=)
NM_000475.5(NR0B1):c.192C>T (p.Tyr64=)
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.237C>A (p.Ile79=) rs2147007339
NM_000475.5(NR0B1):c.252G>C (p.Leu84=) rs1192762456
NM_000475.5(NR0B1):c.255G>T (p.Thr85=) rs759371222
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.300G>C (p.Thr100=)
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.339C>T (p.Pro113=)
NM_000475.5(NR0B1):c.33C>T (p.Ser11=)
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.405T>C (p.Cys135=)
NM_000475.5(NR0B1):c.414C>T (p.Asp138=)
NM_000475.5(NR0B1):c.420G>A (p.Pro140=)
NM_000475.5(NR0B1):c.432C>T (p.Ser144=)
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.507C>A (p.Gly169=)
NM_000475.5(NR0B1):c.508G>C (p.Ala170Pro)
NM_000475.5(NR0B1):c.510G>A (p.Ala170=)
NM_000475.5(NR0B1):c.51T>C (p.Leu17=)
NM_000475.5(NR0B1):c.525C>T (p.Ser175=)
NM_000475.5(NR0B1):c.555G>A (p.Glu185=)
NM_000475.5(NR0B1):c.559C>T (p.Leu187=)
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.603T>C (p.Phe201=)
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.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.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.726G>A (p.Ala242=)
NM_000475.5(NR0B1):c.753A>G (p.Pro251=)
NM_000475.5(NR0B1):c.756G>A (p.Gln252=)
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.801C>T (p.Arg267=)
NM_000475.5(NR0B1):c.804C>T (p.Phe268=)
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.891T>C (p.Leu297=)
NM_000475.5(NR0B1):c.897G>A (p.Leu299=)
NM_000475.5(NR0B1):c.912G>A (p.Leu304=)
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.9C>A (p.Gly3=)
NM_003140.3(SRY):c.339A>G (p.Ala113=) rs773247144
NM_005921.2(MAP3K1):c.1599G>A (p.Arg533=)
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.1926C>A (p.Val642=) rs867527029
NM_005921.2(MAP3K1):c.2012C>T (p.Ala671Val)
NM_005921.2(MAP3K1):c.201T>C (p.Ser67=)
NM_005921.2(MAP3K1):c.2133A>G (p.Lys711=)
NM_005921.2(MAP3K1):c.2370-17A>G
NM_005921.2(MAP3K1):c.261C>G (p.Ser87=)
NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser) rs142968004
NM_005921.2(MAP3K1):c.2824ACA[4] (p.Thr946_Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2824ACA[9] (p.Thr949_Glu950insThr)
NM_005921.2(MAP3K1):c.3198C>G (p.Thr1066=) rs918712593
NM_005921.2(MAP3K1):c.347C>T (p.Ala116Val)
NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=) rs1554035881
NM_005921.2(MAP3K1):c.3667-4G>A rs552563402
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.4092A>G (p.Gln1364=)
NM_005921.2(MAP3K1):c.4114+10C>G
NM_005921.2(MAP3K1):c.429C>T (p.Pro143=) rs1211934332
NM_005921.2(MAP3K1):c.786G>T (p.Val262=)
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.1254C>T (p.Ser418=)
NM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys) rs569356297
NM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)
NM_012082.4(ZFPM2):c.1494A>G (p.Leu498=) rs2131177786
NM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=) rs1186450406
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.1894T>C (p.Leu632=) rs2131179002
NM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)
NM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)
NM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)
NM_012082.4(ZFPM2):c.2355C>T (p.His785=)
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.2712C>T (p.Ser904=) rs2131181789
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.3213C>T (p.Asp1071=)
NM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)
NM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)
NM_012082.4(ZFPM2):c.40+11G>C
NM_012082.4(ZFPM2):c.420+15C>T
NM_012082.4(ZFPM2):c.420+16G>A
NM_012082.4(ZFPM2):c.495G>A (p.Val165=)
NM_012082.4(ZFPM2):c.564C>T (p.Ala188=)
NM_012082.4(ZFPM2):c.78A>G (p.Glu26=)
NM_012082.4(ZFPM2):c.873C>A (p.Ala291=)
NM_012082.4(ZFPM2):c.90G>A (p.Glu30=)
NM_021044.4(DHH):c.1182A>G (p.Leu394=)
NM_021044.4(DHH):c.303+10G>A rs372590251
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.324C>T (p.Asn108=)
NM_021044.4(DHH):c.681G>T (p.Ala227=)
NM_021044.4(DHH):c.804G>A (p.Thr268=)

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.