ClinVar Miner

List of variants in gene NR0B1 studied for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 268
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
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_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 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_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 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_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_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 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_000475.5(NR0B1):c.155A>C (p.Glu52Ala) rs777276628 0.00002
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
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.(?_30322696)_(30327480_?)dup
NC_000023.11:g.(?_30304206_30309390_?)dup
NC_000023.11:g.(?_30304559)_(30309383_?)dup
NM_000475.5(NR0B1):c.1004C>A (p.Pro335His)
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.1034C>A (p.Pro345Gln)
NM_000475.5(NR0B1):c.1037_1038insA (p.Ala347fs)
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.1067C>T (p.Ser356Phe)
NM_000475.5(NR0B1):c.1068C>T (p.Ser356=)
NM_000475.5(NR0B1):c.1099_1100insT (p.Lys367fs)
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.1234A>G (p.Ser412Gly)
NM_000475.5(NR0B1):c.1235G>A (p.Ser412Asn)
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.1284A>T (p.Glu428Asp)
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.1314C>T (p.Phe438=)
NM_000475.5(NR0B1):c.1323C>G (p.Ala441=)
NM_000475.5(NR0B1):c.1326T>C (p.Asn442=)
NM_000475.5(NR0B1):c.1349G>A (p.Arg450Lys)
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.1411T>C (p.Ter471Gln) rs1926485824
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.184dup (p.Leu62fs)
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.257G>A (p.Ser86Asn)
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.274G>C (p.Ala92Pro)
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.308C>T (p.Pro103Leu)
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.343G>T (p.Val115Leu)
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.382C>G (p.Leu128Val)
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.434T>C (p.Ile145Thr)
NM_000475.5(NR0B1):c.444C>T (p.Ser148=)
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.494C>A (p.Ala165Glu)
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.548G>A (p.Gly183Asp)
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.564_567dup (p.Gly190fs)
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.603_604del (p.Phe201fs)
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.650C>G (p.Pro217Arg)
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.686A>G (p.Glu229Gly)
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.781G>A (p.Gly261Ser)
NM_000475.5(NR0B1):c.785T>G (p.Leu262Arg) rs1926571373
NM_000475.5(NR0B1):c.793A>G (p.Thr265Ala)
NM_000475.5(NR0B1):c.797T>C (p.Leu266Pro) rs2147006592
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.805G>C (p.Val269Leu)
NM_000475.5(NR0B1):c.806T>G (p.Val269Gly) rs1555973045
NM_000475.5(NR0B1):c.828G>A (p.Gln276=)
NM_000475.5(NR0B1):c.835C>T (p.Pro279Ser)
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.900C>T (p.Ala300=)
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>C (p.Glu307Gln)
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.986_987delinsA (p.Gly329fs) rs1926565907
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=)

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