ClinVar Miner

List of variants in gene NR2E3 studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.488T>C (p.Met163Thr) rs1805021 0.02481
NM_014249.4(NR2E3):c.419A>G (p.Glu140Gly) rs1805020 0.02391
NM_014249.4(NR2E3):c.*567C>A rs71395043 0.01879
NM_014249.4(NR2E3):c.1095C>T (p.Pro365=) rs35004053 0.01800
NM_014249.4(NR2E3):c.505C>T (p.Leu169=) rs1805022 0.01351
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_014249.4(NR2E3):c.*558C>A rs886051459 0.00506
NM_014249.4(NR2E3):c.361G>A (p.Glu121Lys) rs146403122 0.00472
NM_014249.4(NR2E3):c.245+8C>T rs9920371 0.00409
NM_014249.4(NR2E3):c.349+8G>A rs112520386 0.00344
NM_014249.4(NR2E3):c.333G>A (p.Ala111=) rs900546 0.00228
NM_014249.4(NR2E3):c.*231A>G rs185349250 0.00125
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) rs186714117 0.00087
NM_014249.4(NR2E3):c.900G>A (p.Thr300=) rs184906734 0.00083
NM_014249.4(NR2E3):c.904G>A (p.Val302Ile) rs1805025 0.00063
NM_014249.4(NR2E3):c.131C>T (p.Ser44Leu) rs202098481 0.00053
NM_014249.4(NR2E3):c.455C>T (p.Pro152Leu) rs371853056 0.00053
NM_014249.3(NR2E3):c.-210C>T rs528679282 0.00047
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_014249.4(NR2E3):c.966C>T (p.Cys322=) rs148900690 0.00031
NM_014249.4(NR2E3):c.227G>A (p.Arg76Gln) rs104894493 0.00029
NM_014249.4(NR2E3):c.205G>A (p.Gly69Ser) rs200102936 0.00028
NM_014249.4(NR2E3):c.571+51C>T rs200759758 0.00024
NM_014249.4(NR2E3):c.524C>G (p.Ala175Gly) rs567617489 0.00021
NM_014249.4(NR2E3):c.571+65C>T rs538878781 0.00016
NM_014249.4(NR2E3):c.1195C>A (p.Pro399Thr) rs199564404 0.00012
NM_014249.4(NR2E3):c.170A>G (p.Lys57Arg) rs563014885 0.00011
NM_014249.4(NR2E3):c.223G>A (p.Val75Ile) rs750284532 0.00011
NM_014249.4(NR2E3):c.348C>T (p.Asp116=) rs374499278 0.00009
NM_014249.4(NR2E3):c.843C>T (p.Pro281=) rs555211505 0.00009
NM_014249.4(NR2E3):c.844G>A (p.Glu282Lys) rs370215891 0.00008
NM_014249.4(NR2E3):c.859G>A (p.Gly287Ser) rs764901119 0.00008
NM_014249.4(NR2E3):c.119-8C>T rs373874970 0.00006
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) rs767828150 0.00006
NM_014249.4(NR2E3):c.45A>G (p.Ala15=) rs752130237 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014249.4(NR2E3):c.645C>T (p.Cys215=) rs375133059 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met) rs755224888 0.00006
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg) rs537337423 0.00005
NM_014249.4(NR2E3):c.1096G>A (p.Val366Met) rs150971548 0.00005
NM_014249.4(NR2E3):c.428C>T (p.Pro143Leu) rs776742417 0.00005
NM_014249.4(NR2E3):c.664G>A (p.Glu222Lys) rs371945959 0.00005
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg) rs544807110 0.00004
NM_014249.4(NR2E3):c.444T>C (p.Ala148=) rs533192044 0.00004
NM_014249.4(NR2E3):c.456G>A (p.Pro152=) rs1192258898 0.00004
NM_014249.4(NR2E3):c.677G>A (p.Arg226His) rs544290323 0.00004
NM_014249.4(NR2E3):c.998C>T (p.Thr333Met) rs554638593 0.00004
NM_014249.4(NR2E3):c.*453G>T rs886051457 0.00003
NM_014249.4(NR2E3):c.1001G>A (p.Arg334Gln) rs374483122 0.00003
NM_014249.4(NR2E3):c.1062C>G (p.Ser354Arg) rs777512062 0.00003
NM_014249.4(NR2E3):c.142C>T (p.Arg48Cys) rs763706390 0.00003
NM_014249.4(NR2E3):c.226C>T (p.Arg76Trp) rs104894492 0.00003
NM_014249.4(NR2E3):c.229C>T (p.Arg77Trp) rs779903522 0.00003
NM_014249.4(NR2E3):c.245+9G>A rs538864090 0.00003
NM_014249.4(NR2E3):c.305C>A (p.Ala102Asp) rs772881093 0.00003
NM_014249.4(NR2E3):c.450G>A (p.Pro150=) rs746581775 0.00003
NM_014249.4(NR2E3):c.464G>A (p.Arg155His) rs1361341993 0.00003
NM_014249.4(NR2E3):c.666G>C (p.Glu222Asp) rs759765652 0.00003
NM_014249.4(NR2E3):c.899C>T (p.Thr300Met) rs374016332 0.00003
NM_014249.4(NR2E3):c.*546A>G rs376195026 0.00002
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422 0.00002
NM_014249.4(NR2E3):c.290G>A (p.Arg97His) rs1489149705 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014249.4(NR2E3):c.371C>T (p.Pro124Leu) rs958455222 0.00002
NM_014249.4(NR2E3):c.572-13C>T rs376114936 0.00002
NM_014249.4(NR2E3):c.747+8C>T rs372609616 0.00002
NM_014249.4(NR2E3):c.905T>C (p.Val302Ala) rs759031159 0.00002
NM_014249.4(NR2E3):c.*101T>C rs886051453 0.00001
NM_014249.4(NR2E3):c.*275A>C rs886051455 0.00001
NM_014249.4(NR2E3):c.*489A>G rs969891330 0.00001
NM_014249.4(NR2E3):c.-10C>T rs771015928 0.00001
NM_014249.4(NR2E3):c.1101-10T>C rs763647845 0.00001
NM_014249.4(NR2E3):c.118+15G>A rs2054173141 0.00001
NM_014249.4(NR2E3):c.119-6C>T rs745910334 0.00001
NM_014249.4(NR2E3):c.123G>A (p.Val41=) rs555860015 0.00001
NM_014249.4(NR2E3):c.143G>A (p.Arg48His) rs372156526 0.00001
NM_014249.4(NR2E3):c.164G>A (p.Ser55Asn) rs1420894727 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_014249.4(NR2E3):c.183C>T (p.Ile61=) rs771404428 0.00001
NM_014249.4(NR2E3):c.222C>T (p.Ser74=) rs767304567 0.00001
NM_014249.4(NR2E3):c.309C>A (p.Cys103Ter) rs955766374 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_014249.4(NR2E3):c.332C>T (p.Ala111Val) rs759381786 0.00001
NM_014249.4(NR2E3):c.349+15G>A rs1157654626 0.00001
NM_014249.4(NR2E3):c.350-31C>T rs1322109793 0.00001
NM_014249.4(NR2E3):c.351C>T (p.Ala117=) rs572488420 0.00001
NM_014249.4(NR2E3):c.352G>C (p.Val118Leu) rs776270511 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser) rs1261697277 0.00001
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile) rs534156309 0.00001
NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg) rs2054189787 0.00001
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) rs779518180 0.00001
NM_014249.4(NR2E3):c.629C>T (p.Ser210Phe) rs2054192019 0.00001
NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro) rs771928643 0.00001
NM_014249.4(NR2E3):c.747+10G>A rs780825147 0.00001
NM_014249.4(NR2E3):c.858C>T (p.Ala286=) rs566024312 0.00001
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358 0.00001
NM_014249.4(NR2E3):c.*144A>T rs886051454
NM_014249.4(NR2E3):c.*197T>G rs779157022
NM_014249.4(NR2E3):c.*330C>G rs2054240984
NM_014249.4(NR2E3):c.*340G>C rs886051456
NM_014249.4(NR2E3):c.*400G>C rs2054241697
NM_014249.4(NR2E3):c.*431C>T rs2054241914
NM_014249.4(NR2E3):c.*54G>A rs1007200933
NM_014249.4(NR2E3):c.*554A>C rs886051458
NM_014249.4(NR2E3):c.-139G>T rs138513681
NM_014249.4(NR2E3):c.1020G>A (p.Glu340=) rs2140291719
NM_014249.4(NR2E3):c.1034_1038del (p.Ala344_Leu345insTer) rs1567160967
NM_014249.4(NR2E3):c.1036C>A (p.Gln346Lys)
NM_014249.4(NR2E3):c.1038G>C (p.Gln346His) rs1595957521
NM_014249.4(NR2E3):c.1048C>T (p.Gln350Ter) rs750931603
NM_014249.4(NR2E3):c.1049A>G (p.Gln350Arg)
NM_014249.4(NR2E3):c.1061G>A (p.Ser354Asn)
NM_014249.4(NR2E3):c.1095C>G (p.Pro365=)
NM_014249.4(NR2E3):c.1100+4A>G
NM_014249.4(NR2E3):c.1101-1088A>C
NM_014249.4(NR2E3):c.1112T>G (p.Leu371Trp)
NM_014249.4(NR2E3):c.1118T>C (p.Leu373Pro) rs2140294904
NM_014249.4(NR2E3):c.1120C>T (p.Leu374Phe)
NM_014249.4(NR2E3):c.1127C>A (p.Pro376Gln) rs527428190
NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu) rs527428190
NM_014249.4(NR2E3):c.1167_1168del (p.Phe391fs)
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs) rs574936510
NM_014249.4(NR2E3):c.1172T>A (p.Phe391Tyr)
NM_014249.4(NR2E3):c.1174C>T (p.Arg392Cys)
NM_014249.4(NR2E3):c.119-11C>A rs2054179039
NM_014249.4(NR2E3):c.119-2A>T
NM_014249.4(NR2E3):c.1199T>A (p.Met400Lys) rs2054237722
NM_014249.4(NR2E3):c.143_144delinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48fs) rs730882149
NM_014249.4(NR2E3):c.166G>C (p.Gly56Arg) rs121912631
NM_014249.4(NR2E3):c.16_47del (p.Thr6fs)
NM_014249.4(NR2E3):c.191G>T (p.Cys64Phe) rs878853395
NM_014249.4(NR2E3):c.194_202del (p.Asn65_Cys67del) rs1555454566
NM_014249.4(NR2E3):c.200G>A (p.Cys67Tyr) rs769900190
NM_014249.4(NR2E3):c.222C>G (p.Ser74Arg) rs767304567
NM_014249.4(NR2E3):c.238_240del (p.Ile80del) rs2054181345
NM_014249.4(NR2E3):c.242A>G (p.Tyr81Cys)
NM_014249.4(NR2E3):c.243C>T (p.Tyr81=)
NM_014249.4(NR2E3):c.24G>A (p.Leu8=) rs2054171622
NM_014249.4(NR2E3):c.263G>T (p.Gly88Val) rs1278137915
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014249.4(NR2E3):c.302_325del (p.Gln101_Cys108del)
NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)
NM_014249.4(NR2E3):c.321G>A (p.Lys107=) rs886051450
NM_014249.4(NR2E3):c.328C>T (p.Gln110Ter) rs2054184757
NM_014249.4(NR2E3):c.349+7C>T rs900547
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553
NM_014249.4(NR2E3):c.350-26C>T rs1048078452
NM_014249.4(NR2E3):c.352G>A (p.Val118Met) rs776270511
NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg) rs886051452
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014249.4(NR2E3):c.443C>T (p.Ala148Val)
NM_014249.4(NR2E3):c.461G>C (p.Gly154Ala)
NM_014249.4(NR2E3):c.532dup (p.Ile178fs)
NM_014249.4(NR2E3):c.554del (p.Lys185fs) rs1595956455
NM_014249.4(NR2E3):c.571+44C>G rs372602322
NM_014249.4(NR2E3):c.572-6C>T rs948094961
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter) rs1595956595
NM_014249.4(NR2E3):c.653A>G (p.Asp218Gly) rs2140290038
NM_014249.4(NR2E3):c.700T>C (p.Trp234Arg) rs2054193051
NM_014249.4(NR2E3):c.702G>T (p.Trp234Cys)
NM_014249.4(NR2E3):c.724_725del (p.Ser242fs) rs750740765
NM_014249.4(NR2E3):c.748-1G>A rs2054201689
NM_014249.4(NR2E3):c.753C>G (p.Ile251Met)
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) rs377257254
NM_014249.4(NR2E3):c.838C>G (p.Pro280Ala) rs769154628
NM_014249.4(NR2E3):c.882G>A (p.Thr294=) rs1805024
NM_014249.4(NR2E3):c.925C>G (p.Arg309Gly) rs774102273
NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp) rs774102273
NM_014249.4(NR2E3):c.926G>T (p.Arg309Leu) rs761628767
NM_014249.4(NR2E3):c.951del (p.Thr318fs) rs11351249
NM_014249.4(NR2E3):c.962C>A (p.Ala321Asp)
NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln) rs2054205040
NM_014249.4(NR2E3):c.995-1G>C
NM_014249.4(NR2E3):c.996_997del

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