ClinVar Miner

List of variants in gene NR2E3 reported as uncertain significance for eye degenerative disorder

Included ClinVar conditions (121):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_014249.4(NR2E3):c.*558C>A rs886051459 0.00506
NM_014249.4(NR2E3):c.333G>A (p.Ala111=) rs900546 0.00228
NM_014249.4(NR2E3):c.230G>A (p.Arg77Gln) rs186714117 0.00087
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_014249.4(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.524C>G (p.Ala175Gly) rs567617489 0.00021
NM_014249.4(NR2E3):c.595A>G (p.Ser199Gly) rs201347199 0.00019
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.1198A>G (p.Met400Val) rs369323987 0.00010
NM_014249.4(NR2E3):c.348C>T (p.Asp116=) rs374499278 0.00009
NM_014249.4(NR2E3):c.374G>A (p.Arg125Gln) rs528986571 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.50C>T (p.Ala17Val) rs534483995 0.00007
NM_014249.4(NR2E3):c.741G>C (p.Arg247=) rs375470824 0.00007
NM_014249.4(NR2E3):c.119-8C>T rs373874970 0.00006
NM_014249.4(NR2E3):c.360C>T (p.Asn120=) rs759418091 0.00006
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) rs767828150 0.00006
NM_014249.4(NR2E3):c.645C>T (p.Cys215=) rs375133059 0.00006
NM_014249.4(NR2E3):c.874C>T (p.Arg292Trp) rs368030775 0.00006
NM_014249.4(NR2E3):c.953C>T (p.Thr318Met) rs755224888 0.00006
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.1024G>A (p.Val342Ile) rs757270261 0.00004
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala) rs757665544 0.00004
NM_014249.4(NR2E3):c.118+3A>G rs1243259701 0.00004
NM_014249.4(NR2E3):c.121G>A (p.Val41Met) rs370679503 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.473G>A (p.Arg158Gln) rs889451258 0.00004
NM_014249.4(NR2E3):c.516C>A (p.His172Gln) rs1382603219 0.00004
NM_014249.4(NR2E3):c.546C>G (p.Thr182=) rs754265589 0.00004
NM_014249.4(NR2E3):c.677G>A (p.Arg226His) rs544290323 0.00004
NM_014249.4(NR2E3):c.791G>A (p.Gly264Glu) rs201106600 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.229C>T (p.Arg77Trp) rs779903522 0.00003
NM_014249.4(NR2E3):c.245+9G>A rs538864090 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.740G>A (p.Arg247Gln) rs747043962 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.1055T>C (p.Met352Thr) rs747738378 0.00002
NM_014249.4(NR2E3):c.1149G>A (p.Ala383=) rs371462976 0.00002
NM_014249.4(NR2E3):c.264G>T (p.Gly88=) rs558123422 0.00002
NM_014249.4(NR2E3):c.304G>T (p.Ala102Ser) rs534220505 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.463C>T (p.Arg155Cys) rs376858072 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.*2G>A rs777903865 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.1071C>G (p.Ser357Arg) rs570291117 0.00001
NM_014249.4(NR2E3):c.1101-10T>C rs763647845 0.00001
NM_014249.4(NR2E3):c.1175G>A (p.Arg392His) rs765705755 0.00001
NM_014249.4(NR2E3):c.1179G>T (p.Lys393Asn) rs751040956 0.00001
NM_014249.4(NR2E3):c.1184T>C (p.Ile395Thr) rs529102778 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.202A>G (p.Ser68Gly) rs763764130 0.00001
NM_014249.4(NR2E3):c.222C>T (p.Ser74=) rs767304567 0.00001
NM_014249.4(NR2E3):c.2T>G (p.Met1Arg) rs975791531 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.37G>T (p.Val13Leu) rs1367552026 0.00001
NM_014249.4(NR2E3):c.425G>A (p.Arg142Gln) rs985502276 0.00001
NM_014249.4(NR2E3):c.429G>A (p.Pro143=) rs1302469540 0.00001
NM_014249.4(NR2E3):c.454C>T (p.Pro152Ser) rs1261697277 0.00001
NM_014249.4(NR2E3):c.479C>G (p.Pro160Arg) rs1369112349 0.00001
NM_014249.4(NR2E3):c.571G>A (p.Ala191Thr) rs779518180 0.00001
NM_014249.4(NR2E3):c.640C>T (p.Pro214Ser) rs371694743 0.00001
NM_014249.4(NR2E3):c.674C>A (p.Ala225Asp) rs1301549811 0.00001
NM_014249.4(NR2E3):c.67G>C (p.Ala23Pro) rs771928643 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.*563_*566del rs531918877
NM_014249.4(NR2E3):c.-139G>A rs138513681
NM_014249.4(NR2E3):c.-139G>T rs138513681
NM_014249.4(NR2E3):c.-47C>T rs886051449
NM_014249.4(NR2E3):c.1100+4A>G
NM_014249.4(NR2E3):c.1118T>C (p.Leu373Pro) rs2140294904
NM_014249.4(NR2E3):c.1122C>G (p.Leu374=) rs1204834613
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.119-10T>A rs2054179057
NM_014249.4(NR2E3):c.1219A>G (p.Met407Val)
NM_014249.4(NR2E3):c.1221G>A (p.Met407Ile) rs1350533520
NM_014249.4(NR2E3):c.145G>C (p.Val49Leu) rs890956501
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.24G>A (p.Leu8=) rs2054171622
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014249.4(NR2E3):c.321G>A (p.Lys107=) rs886051450
NM_014249.4(NR2E3):c.349+12dup rs886051451
NM_014249.4(NR2E3):c.349G>A (p.Ala117Thr) rs1259983553
NM_014249.4(NR2E3):c.360C>A (p.Asn120Lys) rs759418091
NM_014249.4(NR2E3):c.402C>A (p.Ser134Arg) rs886051452
NM_014249.4(NR2E3):c.449C>A (p.Pro150Gln) rs777140312
NM_014249.4(NR2E3):c.461G>C (p.Gly154Ala)
NM_014249.4(NR2E3):c.469C>G (p.Pro157Ala) rs2054188239
NM_014249.4(NR2E3):c.47C>T (p.Ala16Val) rs1239436868
NM_014249.4(NR2E3):c.641C>T (p.Pro214Leu) rs749050219
NM_014249.4(NR2E3):c.671C>T (p.Ser224Leu) rs765642230
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.90C>A (p.Gly30=) rs1204872132
NM_014249.4(NR2E3):c.925C>T (p.Arg309Trp) rs774102273
NM_014249.4(NR2E3):c.984C>T (p.Leu328=) rs2054204915
NM_014249.4(NR2E3):c.994+6T>C rs768259264

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