ClinVar Miner

List of variants in gene NR2F1

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Gene type:
ClinVar version:
Total variants: 411
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HGVS dbSNP gnomAD frequency
NM_005654.6(NR2F1):c.-187G>A rs866080178 0.02747
NM_005654.6(NR2F1):c.-1588T>C rs76981368 0.01884
NM_005654.6(NR2F1):c.162C>A (p.Thr54=) rs557800691 0.01197
NM_005654.6(NR2F1):c.463+99C>G rs533917207 0.00374
NM_005654.6(NR2F1):c.-33C>T rs372818347 0.00098
NM_005654.6(NR2F1):c.1197C>T (p.Ile399=) rs138827038 0.00066
NM_005654.6(NR2F1):c.*50C>T rs376558654 0.00059
NM_005654.6(NR2F1):c.237G>C (p.Gln79His) rs199844882 0.00054
NM_005654.6(NR2F1):c.993C>T (p.Asp331=) rs202243427 0.00032
NM_005654.6(NR2F1):c.192C>T (p.Pro64=) rs747522225 0.00026
NM_005654.6(NR2F1):c.708C>T (p.Asn236=) rs372227484 0.00020
NM_005654.6(NR2F1):c.903C>A (p.Ile301=) rs750683610 0.00015
NM_005654.6(NR2F1):c.464-43C>T rs192538307 0.00012
NM_005654.6(NR2F1):c.811C>T (p.Leu271=) rs777533706 0.00012
NM_005654.6(NR2F1):c.1008G>A (p.Ser336=) rs145104274 0.00005
NM_005654.6(NR2F1):c.40G>T (p.Asp14Tyr) rs1193147148 0.00005
NM_005654.6(NR2F1):c.505G>A (p.Gly169Ser) rs370606773 0.00005
NM_005654.6(NR2F1):c.1014G>A (p.Ala338=) rs201229023 0.00004
NM_005654.6(NR2F1):c.464-19C>T rs904035084 0.00004
NM_005654.6(NR2F1):c.48C>T (p.Ala16=) rs780151168 0.00004
NM_005654.6(NR2F1):c.756A>G (p.Leu252=) rs547985564 0.00004
NM_005654.6(NR2F1):c.1050C>T (p.Cys350=) rs530910180 0.00003
NM_005654.6(NR2F1):c.1149C>T (p.Ser383=) rs144876856 0.00003
NM_005654.6(NR2F1):c.183C>T (p.Pro61=) rs1054029785 0.00003
NM_005654.6(NR2F1):c.531C>T (p.Asp177=) rs964131641 0.00003
NM_005654.6(NR2F1):c.558C>T (p.Ser186=) rs773102110 0.00003
NM_005654.6(NR2F1):c.1023C>T (p.Ile341=) rs776732958 0.00002
NM_005654.6(NR2F1):c.1212C>T (p.Arg404=) rs761244180 0.00002
NM_005654.6(NR2F1):c.465G>T (p.Ala155=) rs372471207 0.00002
NM_005654.6(NR2F1):c.540C>T (p.Asn180=) rs747863258 0.00002
NM_005654.6(NR2F1):c.63C>A (p.Gly21=) rs1432991015 0.00002
NM_005654.6(NR2F1):c.*10G>A rs577470913 0.00001
NM_005654.6(NR2F1):c.1013C>T (p.Ala338Val) rs1192010938 0.00001
NM_005654.6(NR2F1):c.101G>T (p.Gly34Val) rs1753206176 0.00001
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter) rs1297603674 0.00001
NM_005654.6(NR2F1):c.1170C>T (p.Phe390=) rs1420094450 0.00001
NM_005654.6(NR2F1):c.1174C>T (p.Arg392Cys) rs1753374624 0.00001
NM_005654.6(NR2F1):c.1219T>C (p.Leu407=) rs750040062 0.00001
NM_005654.6(NR2F1):c.1248T>A (p.Pro416=) rs753642534 0.00001
NM_005654.6(NR2F1):c.153G>A (p.Thr51=) rs1057522243 0.00001
NM_005654.6(NR2F1):c.204G>A (p.Gly68=) rs1401241589 0.00001
NM_005654.6(NR2F1):c.20G>A (p.Ser7Asn) rs1753203799 0.00001
NM_005654.6(NR2F1):c.211G>A (p.Gly71Ser) rs1131691363 0.00001
NM_005654.6(NR2F1):c.276G>A (p.Lys92=) rs906581747 0.00001
NM_005654.6(NR2F1):c.463+5A>G rs747394434 0.00001
NM_005654.6(NR2F1):c.533C>T (p.Pro178Leu) rs1161717916 0.00001
NM_005654.6(NR2F1):c.547T>A (p.Cys183Ser) rs771713174 0.00001
NM_005654.6(NR2F1):c.666G>A (p.Leu222=) rs764266826 0.00001
NM_005654.6(NR2F1):c.681C>T (p.Leu227=) rs751683829 0.00001
NM_005654.6(NR2F1):c.765C>G (p.Thr255=) rs778504524 0.00001
NM_005654.6(NR2F1):c.859A>T (p.Met287Leu) rs751163796 0.00001
NM_005654.6(NR2F1):c.891C>T (p.Asp297=) rs774531602 0.00001
NM_005654.6(NR2F1):c.931G>A (p.Ala311Thr) rs1753268123 0.00001
NM_005654.6(NR2F1):c.939C>T (p.His313=) rs1018466118 0.00001
NM_005654.6(NR2F1):c.987G>A (p.Thr329=) rs757861079 0.00001
NM_005654.6(NR2F1):c.991+19G>A rs781016741 0.00001
GRCh37/hg19 5q15(chr5:92919336-92925582)x4
NC_000005.10:g.(?_93585023)_(93593843_?)del
NC_000005.9:g.(?_92920730)_(92929548_?)del
NC_000005.9:g.(?_92920730)_(92929548_?)dup
NM_005654.6(NR2F1):c.*649T>C
NM_005654.6(NR2F1):c.*9C>T rs202006298
NM_005654.6(NR2F1):c.-1751CT[11] rs140194624
NM_005654.6(NR2F1):c.-1761A>G
NM_005654.6(NR2F1):c.1013C>G (p.Ala338Gly)
NM_005654.6(NR2F1):c.1016C>A (p.Ala339Asp) rs773473731
NM_005654.6(NR2F1):c.1017C>G (p.Ala339=)
NM_005654.6(NR2F1):c.1021A>G (p.Ile341Val)
NM_005654.6(NR2F1):c.1023C>A (p.Ile341=)
NM_005654.6(NR2F1):c.1023C>G (p.Ile341Met)
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.1024G>C (p.Glu342Gln)
NM_005654.6(NR2F1):c.102C>T (p.Gly34=)
NM_005654.6(NR2F1):c.1044G>A (p.Ser348=) rs142689077
NM_005654.6(NR2F1):c.1044G>T (p.Ser348=)
NM_005654.6(NR2F1):c.1047del (p.Gln349fs)
NM_005654.6(NR2F1):c.104G>C (p.Gly35Ala)
NM_005654.6(NR2F1):c.104_115dup (p.Gly38_Glu39insGlyGlyAlaGly)
NM_005654.6(NR2F1):c.1050C>A (p.Cys350Ter) rs530910180
NM_005654.6(NR2F1):c.1051G>A (p.Ala351Thr)
NM_005654.6(NR2F1):c.1060G>A (p.Glu354Lys)
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter) rs763566932
NM_005654.6(NR2F1):c.1065C>T (p.Tyr355=)
NM_005654.6(NR2F1):c.1065del (p.Glu354_Tyr355insTer)
NM_005654.6(NR2F1):c.106G>A (p.Gly36Ser)
NM_005654.6(NR2F1):c.1071G>C (p.Arg357Ser)
NM_005654.6(NR2F1):c.1075C>T (p.Gln359Ter)
NM_005654.6(NR2F1):c.1077_1084del (p.Tyr360fs)
NM_005654.6(NR2F1):c.107_115dup (p.Gly36_Gly38dup) rs1414612574
NM_005654.6(NR2F1):c.1083del (p.Asn362fs) rs2149946049
NM_005654.6(NR2F1):c.1086C>T (p.Asn362=)
NM_005654.6(NR2F1):c.1092C>T (p.Pro364=)
NM_005654.6(NR2F1):c.1096C>A (p.Arg366Ser) rs764011372
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His) rs1753373048
NM_005654.6(NR2F1):c.110C>G (p.Ala37Gly)
NM_005654.6(NR2F1):c.110_115dup (p.Ala37_Gly38dup) rs1159055932
NM_005654.6(NR2F1):c.1111C>T (p.Leu371=)
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro) rs1554075105
NM_005654.6(NR2F1):c.1118G>A (p.Arg373Gln) rs2149946068
NM_005654.6(NR2F1):c.111C>G (p.Ala37=) rs1183108440
NM_005654.6(NR2F1):c.112G>A (p.Gly38Ser)
NM_005654.6(NR2F1):c.112G>T (p.Gly38Cys)
NM_005654.6(NR2F1):c.1134C>A (p.Arg378=) rs755004144
NM_005654.6(NR2F1):c.1134C>T (p.Arg378=)
NM_005654.6(NR2F1):c.1135A>T (p.Thr379Ser)
NM_005654.6(NR2F1):c.1140G>A (p.Val380=)
NM_005654.6(NR2F1):c.1146C>T (p.Ser382=)
NM_005654.6(NR2F1):c.1149del (p.Val384fs)
NM_005654.6(NR2F1):c.114C>A (p.Gly38=)
NM_005654.6(NR2F1):c.114C>T (p.Gly38=) rs986172152
NM_005654.6(NR2F1):c.1150G>A (p.Val384Ile)
NM_005654.6(NR2F1):c.1155C>T (p.Ile385=)
NM_005654.6(NR2F1):c.115G>A (p.Glu39Lys)
NM_005654.6(NR2F1):c.1165TTC[1] (p.Phe390del) rs1064794459
NM_005654.6(NR2F1):c.1170C>G (p.Phe390Leu) rs1420094450
NM_005654.6(NR2F1):c.1171G>A (p.Val391Ile)
NM_005654.6(NR2F1):c.1171del (p.Val391fs) rs2149946118
NM_005654.6(NR2F1):c.117G>C (p.Glu39Asp)
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly) rs2149946121
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
NM_005654.6(NR2F1):c.1192C>G (p.Pro398Ala)
NM_005654.6(NR2F1):c.1204C>G (p.Leu402Val)
NM_005654.6(NR2F1):c.1205T>G (p.Leu402Arg)
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
NM_005654.6(NR2F1):c.1207_1209del (p.Ile403del) rs2149946131
NM_005654.6(NR2F1):c.120del (p.Gln40fs) rs1753206907
NM_005654.6(NR2F1):c.1210C>T (p.Arg404Cys)
NM_005654.6(NR2F1):c.1212C>A (p.Arg404=)
NM_005654.6(NR2F1):c.1217T>C (p.Met406Thr) rs1060499589
NM_005654.6(NR2F1):c.121C>T (p.Gln41Ter)
NM_005654.6(NR2F1):c.1231A>G (p.Ser411Gly)
NM_005654.6(NR2F1):c.1235G>C (p.Ser412Thr)
NM_005654.6(NR2F1):c.123G>A (p.Gln41=)
NM_005654.6(NR2F1):c.1241A>G (p.Asn414Ser) rs1753375708
NM_005654.6(NR2F1):c.1262A>C (p.Gln421Pro)
NM_005654.6(NR2F1):c.1263G>A (p.Gln421=)
NM_005654.6(NR2F1):c.131C>T (p.Ala44Val) rs1753207201
NM_005654.6(NR2F1):c.134G>C (p.Gly45Ala)
NM_005654.6(NR2F1):c.137C>G (p.Ser46Trp)
NM_005654.6(NR2F1):c.137C>T (p.Ser46Leu)
NM_005654.6(NR2F1):c.138G>C (p.Ser46=)
NM_005654.6(NR2F1):c.142_150del (p.Ala48_His50del)
NM_005654.6(NR2F1):c.14T>C (p.Val5Ala)
NM_005654.6(NR2F1):c.150C>G (p.His50Gln) rs1272746750
NM_005654.6(NR2F1):c.162C>T (p.Thr54=) rs557800691
NM_005654.6(NR2F1):c.165G>A (p.Pro55=)
NM_005654.6(NR2F1):c.165G>C (p.Pro55=) rs772383390
NM_005654.6(NR2F1):c.169C>T (p.Gln57Ter) rs1753208096
NM_005654.6(NR2F1):c.172C>A (p.Pro58Thr) rs936346582
NM_005654.6(NR2F1):c.173C>A (p.Pro58His)
NM_005654.6(NR2F1):c.174C>A (p.Pro58=) rs1191057648
NM_005654.6(NR2F1):c.177A>G (p.Gly59=)
NM_005654.6(NR2F1):c.177_194del (p.Ala60_Gly65del)
NM_005654.6(NR2F1):c.179C>T (p.Ala60Val)
NM_005654.6(NR2F1):c.17G>A (p.Ser6Asn)
NM_005654.6(NR2F1):c.184G>A (p.Ala62Thr)
NM_005654.6(NR2F1):c.184G>C (p.Ala62Pro)
NM_005654.6(NR2F1):c.189C>T (p.Thr63=) rs1753208796
NM_005654.6(NR2F1):c.191C>T (p.Pro64Leu)
NM_005654.6(NR2F1):c.193G>A (p.Gly65Ser) rs201452963
NM_005654.6(NR2F1):c.197C>T (p.Thr66Met) rs2149941519
NM_005654.6(NR2F1):c.198G>A (p.Thr66=)
NM_005654.6(NR2F1):c.1A>C (p.Met1Leu) rs1064796799
NM_005654.6(NR2F1):c.1A>G (p.Met1Val) rs1064796799
NM_005654.6(NR2F1):c.205G>C (p.Asp69His)
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs) rs2149941524
NM_005654.6(NR2F1):c.210G>C (p.Lys70Asn)
NM_005654.6(NR2F1):c.218G>A (p.Gly73Asp) rs2149941532
NM_005654.6(NR2F1):c.220C>T (p.Pro74Ser)
NM_005654.6(NR2F1):c.226G>A (p.Gly76Ser) rs776195820
NM_005654.6(NR2F1):c.227G>C (p.Gly76Ala)
NM_005654.6(NR2F1):c.231G>C (p.Ser77=) rs1234276128
NM_005654.6(NR2F1):c.233G>C (p.Gly78Ala)
NM_005654.6(NR2F1):c.239G>T (p.Ser80Ile) rs1561523678
NM_005654.6(NR2F1):c.240_255del (p.Gln81fs)
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter) rs2149941551
NM_005654.6(NR2F1):c.246G>A (p.Gln82=)
NM_005654.6(NR2F1):c.255G>C (p.Glu85Asp) rs762719149
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg) rs1753210329
NM_005654.6(NR2F1):c.257G>T (p.Cys86Phe) rs1554074665
NM_005654.6(NR2F1):c.262G>A (p.Val88Met) rs886039714
NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg) rs1561523716
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)
NM_005654.6(NR2F1):c.274A>T (p.Lys92Ter)
NM_005654.6(NR2F1):c.278C>A (p.Ser93Ter) rs1064797311
NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu) rs1064797311
NM_005654.6(NR2F1):c.279G>T (p.Ser93=) rs774052702
NM_005654.6(NR2F1):c.282C>A (p.Ser94Arg)
NM_005654.6(NR2F1):c.282C>T (p.Ser94=)
NM_005654.6(NR2F1):c.284G>A (p.Gly95Asp)
NM_005654.6(NR2F1):c.286A>G (p.Lys96Glu) rs2149941586
NM_005654.6(NR2F1):c.288G>A (p.Lys96=) rs1580358607
NM_005654.6(NR2F1):c.289C>G (p.His97Asp) rs1287146448
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr) rs1287146448
NM_005654.6(NR2F1):c.290A>C (p.His97Pro) rs1554074673
NM_005654.6(NR2F1):c.291C>T (p.His97=)
NM_005654.6(NR2F1):c.291_294dup (p.Gly99fs)
NM_005654.6(NR2F1):c.292T>C (p.Tyr98His) rs2149941592
NM_005654.6(NR2F1):c.296G>T (p.Gly99Val)
NM_005654.6(NR2F1):c.29A>G (p.Asp10Gly)
NM_005654.6(NR2F1):c.2T>A (p.Met1Lys)
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr) rs886041216
NM_005654.6(NR2F1):c.303C>T (p.Phe101=)
NM_005654.6(NR2F1):c.307T>C (p.Cys103Arg)
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys) rs2149941603
NM_005654.6(NR2F1):c.310G>C (p.Glu104Gln)
NM_005654.6(NR2F1):c.311A>T (p.Glu104Val)
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser) rs1554074677
NM_005654.6(NR2F1):c.314G>A (p.Gly105Asp) rs1554074681
NM_005654.6(NR2F1):c.314G>C (p.Gly105Ala)
NM_005654.6(NR2F1):c.317G>A (p.Cys106Tyr) rs1131691826
NM_005654.6(NR2F1):c.319A>G (p.Lys107Glu)
NM_005654.6(NR2F1):c.320A>G (p.Lys107Arg) rs2149941608
NM_005654.6(NR2F1):c.323G>A (p.Ser108Asn) rs1554074682
NM_005654.6(NR2F1):c.323G>T (p.Ser108Ile) rs1554074682
NM_005654.6(NR2F1):c.324T>C (p.Ser108=)
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu) rs1753211889
NM_005654.6(NR2F1):c.328T>C (p.Phe110Leu) rs2149941610
NM_005654.6(NR2F1):c.32C>T (p.Pro11Leu) rs1276892077
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu) rs2149941611
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.335G>C (p.Arg112Thr)
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.344G>T (p.Arg115Leu)
NM_005654.6(NR2F1):c.348del (p.Asn117fs)
NM_005654.6(NR2F1):c.351C>A (p.Asn117Lys) rs1329040695
NM_005654.6(NR2F1):c.351C>T (p.Asn117=) rs1329040695
NM_005654.6(NR2F1):c.353T>G (p.Leu118Ter) rs1561523796
NM_005654.6(NR2F1):c.354_357del (p.Leu118fs) rs1580358650
NM_005654.6(NR2F1):c.359A>G (p.Tyr120Cys)
NM_005654.6(NR2F1):c.359dup (p.Tyr120Ter) rs2149941624
NM_005654.6(NR2F1):c.35A>G (p.Gln12Arg)
NM_005654.6(NR2F1):c.361A>G (p.Thr121Ala)
NM_005654.6(NR2F1):c.365G>A (p.Cys122Tyr)
NM_005654.6(NR2F1):c.365G>C (p.Cys122Ser) rs1057522318
NM_005654.6(NR2F1):c.375C>G (p.Asn125Lys)
NM_005654.6(NR2F1):c.376A>C (p.Arg126=) rs2149941634
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg) rs863224903
NM_005654.6(NR2F1):c.384T>C (p.Cys128=)
NM_005654.6(NR2F1):c.391G>A (p.Asp131Asn) rs2149941644
NM_005654.6(NR2F1):c.393C>T (p.Asp131=)
NM_005654.6(NR2F1):c.395A>G (p.Gln132Arg)
NM_005654.6(NR2F1):c.3G>A (p.Met1Ile)
NM_005654.6(NR2F1):c.403C>T (p.Arg135Cys) rs1022192010
NM_005654.6(NR2F1):c.404G>A (p.Arg135His)
NM_005654.6(NR2F1):c.404G>T (p.Arg135Leu)
NM_005654.6(NR2F1):c.410A>C (p.Gln137Pro)
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) rs1057519434
NM_005654.6(NR2F1):c.414C>T (p.Cys138=) rs1753212998
NM_005654.6(NR2F1):c.417A>T (p.Gln139His) rs778199728
NM_005654.6(NR2F1):c.421T>G (p.Cys141Gly)
NM_005654.6(NR2F1):c.424C>G (p.Arg142Gly)
NM_005654.6(NR2F1):c.424C>T (p.Arg142Cys) rs886041738
NM_005654.6(NR2F1):c.425G>A (p.Arg142His) rs1554074684
NM_005654.6(NR2F1):c.425G>T (p.Arg142Leu) rs1554074684
NM_005654.6(NR2F1):c.427_429delinsTT (p.Lys144fs) rs2149941660
NM_005654.6(NR2F1):c.429C>T (p.Leu143=) rs2149941661
NM_005654.6(NR2F1):c.437G>A (p.Cys146Tyr) rs1753213218
NM_005654.6(NR2F1):c.442A>T (p.Lys148Ter)
NM_005654.6(NR2F1):c.448G>A (p.Gly150Ser)
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile) rs1580358677
NM_005654.6(NR2F1):c.459G>T (p.Arg153=) rs1479279806
NM_005654.6(NR2F1):c.460G>A (p.Glu154Lys)
NM_005654.6(NR2F1):c.462_463+19del
NM_005654.6(NR2F1):c.463+13_463+15del
NM_005654.6(NR2F1):c.463+1G>A rs1753213365
NM_005654.6(NR2F1):c.463+5A>C
NM_005654.6(NR2F1):c.463+6T>C
NM_005654.6(NR2F1):c.463+7A>G
NM_005654.6(NR2F1):c.464-11_464-8del rs769788437
NM_005654.6(NR2F1):c.464-20TC[2]
NM_005654.6(NR2F1):c.464-7_464-6del
NM_005654.6(NR2F1):c.464-9_464-6del
NM_005654.6(NR2F1):c.471G>T (p.Gln157His)
NM_005654.6(NR2F1):c.495_496delinsAA (p.Pro166Thr)
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu) rs1753260850
NM_005654.6(NR2F1):c.49G>C (p.Gly17Arg)
NM_005654.6(NR2F1):c.513C>G (p.Tyr171Ter) rs1306612236
NM_005654.6(NR2F1):c.513C>T (p.Tyr171=)
NM_005654.6(NR2F1):c.514G>C (p.Ala172Pro)
NM_005654.6(NR2F1):c.517C>T (p.Leu173Phe)
NM_005654.6(NR2F1):c.519C>T (p.Leu173=) rs2149942955
NM_005654.6(NR2F1):c.528_542del (p.Asp177_Gly181del)
NM_005654.6(NR2F1):c.530A>G (p.Asp177Gly)
NM_005654.6(NR2F1):c.539A>G (p.Asn180Ser)
NM_005654.6(NR2F1):c.53G>T (p.Gly18Val)
NM_005654.6(NR2F1):c.53del (p.Gly18fs)
NM_005654.6(NR2F1):c.547del (p.Cys183fs)
NM_005654.6(NR2F1):c.549C>T (p.Cys183=)
NM_005654.6(NR2F1):c.559G>C (p.Gly187Arg)
NM_005654.6(NR2F1):c.565A>C (p.Ile189Leu)
NM_005654.6(NR2F1):c.574C>G (p.Leu192Val)
NM_005654.6(NR2F1):c.57C>T (p.Asn19=) rs1197079076
NM_005654.6(NR2F1):c.585C>G (p.Ala195=)
NM_005654.6(NR2F1):c.58C>T (p.Pro20Ser)
NM_005654.6(NR2F1):c.594C>T (p.Tyr198=)
NM_005654.6(NR2F1):c.597del (p.Thr200fs)
NM_005654.6(NR2F1):c.597dup (p.Thr200fs) rs2149942993
NM_005654.6(NR2F1):c.59C>A (p.Pro20His)
NM_005654.6(NR2F1):c.59C>T (p.Pro20Leu)
NM_005654.6(NR2F1):c.5C>T (p.Ala2Val)
NM_005654.6(NR2F1):c.601T>A (p.Ser201Thr) rs368008985
NM_005654.6(NR2F1):c.60C>G (p.Pro20=) rs753932507
NM_005654.6(NR2F1):c.60C>T (p.Pro20=)
NM_005654.6(NR2F1):c.616C>T (p.Gln206Ter)
NM_005654.6(NR2F1):c.632A>G (p.Asn211Ser)
NM_005654.6(NR2F1):c.632ACA[1] (p.Asn212del) rs749118126
NM_005654.6(NR2F1):c.639T>A (p.Ile213=)
NM_005654.6(NR2F1):c.645C>G (p.Gly215=)
NM_005654.6(NR2F1):c.651G>A (p.Glu217=)
NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro)
NM_005654.6(NR2F1):c.667_668insTCGCGCGCTGG (p.Ala223fs) rs1753263819
NM_005654.6(NR2F1):c.66C>T (p.Gly22=) rs971963375
NM_005654.6(NR2F1):c.674G>A (p.Arg225His)
NM_005654.6(NR2F1):c.674G>C (p.Arg225Pro)
NM_005654.6(NR2F1):c.677T>C (p.Leu226Pro)
NM_005654.6(NR2F1):c.677T>G (p.Leu226Arg)
NM_005654.6(NR2F1):c.682_684dup (p.Phe228dup) rs1753264180
NM_005654.6(NR2F1):c.687C>A (p.Ser229Arg)
NM_005654.6(NR2F1):c.690C>T (p.Ala230=)
NM_005654.6(NR2F1):c.69C>T (p.Pro23=) rs1554074634
NM_005654.6(NR2F1):c.704G>T (p.Arg235Leu) rs2149943041
NM_005654.6(NR2F1):c.711C>G (p.Ile237Met)
NM_005654.6(NR2F1):c.717C>G (p.Phe239Leu)
NM_005654.6(NR2F1):c.71A>G (p.Asn24Ser)
NM_005654.6(NR2F1):c.726T>C (p.Asp242=)
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter) rs1554074850
NM_005654.6(NR2F1):c.72C>A (p.Asn24Lys) rs1753205307
NM_005654.6(NR2F1):c.73C>G (p.Pro25Ala) rs922976793
NM_005654.6(NR2F1):c.741C>T (p.Asp247=) rs1753265081
NM_005654.6(NR2F1):c.748T>G (p.Ser250Ala)
NM_005654.6(NR2F1):c.74C>G (p.Pro25Arg) rs2149941397
NM_005654.6(NR2F1):c.755T>A (p.Leu252Gln) rs587777276
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005654.6(NR2F1):c.75C>T (p.Pro25=)
NM_005654.6(NR2F1):c.763dup (p.Thr255fs)
NM_005654.6(NR2F1):c.764C>G (p.Thr255Ser)
NM_005654.6(NR2F1):c.76G>A (p.Ala26Thr)
NM_005654.6(NR2F1):c.76G>T (p.Ala26Ser)
NM_005654.6(NR2F1):c.788A>G (p.Asn263Ser)
NM_005654.6(NR2F1):c.791C>G (p.Ala264Gly)
NM_005654.6(NR2F1):c.79G>C (p.Ala27Pro)
NM_005654.6(NR2F1):c.801C>T (p.Cys267=) rs1331078890
NM_005654.6(NR2F1):c.803C>A (p.Ser268Tyr)
NM_005654.6(NR2F1):c.807G>A (p.Met269Ile)
NM_005654.6(NR2F1):c.810G>A (p.Pro270=) rs1561524973
NM_005654.6(NR2F1):c.816C>T (p.His272=)
NM_005654.6(NR2F1):c.81G>A (p.Ala27=)
NM_005654.6(NR2F1):c.827T>A (p.Leu276Ter) rs2149943098
NM_005654.6(NR2F1):c.82C>T (p.Gln28Ter) rs1342982789
NM_005654.6(NR2F1):c.834C>T (p.Ala278=) rs1019282462
NM_005654.6(NR2F1):c.840C>T (p.Ala280=)
NM_005654.6(NR2F1):c.843C>T (p.Gly281=)
NM_005654.6(NR2F1):c.852C>T (p.Ala284=)
NM_005654.6(NR2F1):c.854C>T (p.Ser285Leu) rs2149943117
NM_005654.6(NR2F1):c.856C>G (p.Pro286Ala)
NM_005654.6(NR2F1):c.85G>A (p.Ala29Thr)
NM_005654.6(NR2F1):c.867C>T (p.Ala289=) rs768598143
NM_005654.6(NR2F1):c.86C>T (p.Ala29Val)
NM_005654.6(NR2F1):c.886A>G (p.Met296Val) rs1281229857
NM_005654.6(NR2F1):c.892C>A (p.His298Asn)
NM_005654.6(NR2F1):c.894C>T (p.His298=)
NM_005654.6(NR2F1):c.898C>T (p.Arg300Cys)
NM_005654.6(NR2F1):c.899G>A (p.Arg300His)
NM_005654.6(NR2F1):c.89_133dup (p.Ala44_Gly45insAlaArgGlyGlyGlyGlyGlyAlaGlyGluGlnGlnGlnGlnAla)
NM_005654.6(NR2F1):c.901A>G (p.Ile301Val)
NM_005654.6(NR2F1):c.907C>T (p.Gln303Ter)
NM_005654.6(NR2F1):c.90C>A (p.Ala30=)
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs) rs1580358347
NM_005654.6(NR2F1):c.916G>A (p.Val306Met) rs2149943146
NM_005654.6(NR2F1):c.91C>A (p.Arg31Ser)
NM_005654.6(NR2F1):c.921G>C (p.Glu307Asp)
NM_005654.6(NR2F1):c.92GCG[3] (p.Gly34_Gly36del) rs954495672
NM_005654.6(NR2F1):c.92GCG[4] (p.Gly35_Gly36del)
NM_005654.6(NR2F1):c.92GCG[5] (p.Gly36del)
NM_005654.6(NR2F1):c.92GCG[7] (p.Gly36dup) rs954495672
NM_005654.6(NR2F1):c.92GCG[8] (p.Gly36_Ala37insGlyGly)
NM_005654.6(NR2F1):c.92GCG[9] (p.Gly34_Gly36dup) rs954495672
NM_005654.6(NR2F1):c.92_93delinsAA (p.Arg31Gln)
NM_005654.6(NR2F1):c.940G>C (p.Val314Leu)
NM_005654.6(NR2F1):c.945C>T (p.Asp315=)
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)
NM_005654.6(NR2F1):c.952G>T (p.Glu318Ter) rs2149943169
NM_005654.6(NR2F1):c.953A>G (p.Glu318Gly) rs2149943173
NM_005654.6(NR2F1):c.968_969del (p.Lys323fs) rs1580360308
NM_005654.6(NR2F1):c.973A>G (p.Ile325Val)
NM_005654.6(NR2F1):c.974T>C (p.Ile325Thr)
NM_005654.6(NR2F1):c.975C>T (p.Ile325=)
NM_005654.6(NR2F1):c.981G>A (p.Leu327=)
NM_005654.6(NR2F1):c.986C>T (p.Thr329Met)
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs) rs1753268855
NM_005654.6(NR2F1):c.988T>G (p.Ser330Ala)
NM_005654.6(NR2F1):c.991+10C>A rs1554074872
NM_005654.6(NR2F1):c.991+12del rs774050994
NM_005654.6(NR2F1):c.991+17_991+38dup
NM_005654.6(NR2F1):c.991+2T>A
NM_005654.6(NR2F1):c.991+5G>A
NM_005654.6(NR2F1):c.991+9G>A
NM_005654.6(NR2F1):c.992-16G>A rs946631304
NM_005654.6(NR2F1):c.992-19C>T
NM_005654.6(NR2F1):c.992-6G>T
NM_005654.6(NR2F1):c.994G>A (p.Ala332Thr)
NM_005654.6(NR2F1):c.997T>G (p.Cys333Gly)
NM_005654.6(NR2F1):c.99C>A (p.Gly33=)

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