ClinVar Miner

List of variants in gene MECP2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 270
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HGVS dbSNP
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.33_35AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33_35AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) rs1333935838
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) rs1234894476
NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_004992.3(MECP2):c.*1134G>A rs267608390
NM_004992.3(MECP2):c.*1237T>C rs267608365
NM_004992.3(MECP2):c.*13C>T rs782334844
NM_004992.3(MECP2):c.*14G>A rs199963992
NM_004992.3(MECP2):c.*16A>G rs1057520854
NM_004992.3(MECP2):c.*1737G>A rs3027922
NM_004992.3(MECP2):c.*1C>G rs781782964
NM_004992.3(MECP2):c.*328G>A rs62621673
NM_004992.3(MECP2):c.*3477G>A rs56036177
NM_004992.3(MECP2):c.*359G>C rs62621674
NM_004992.3(MECP2):c.*363G>C rs62621675
NM_004992.3(MECP2):c.*3662A>G rs267608366
NM_004992.3(MECP2):c.*36G>C rs267608347
NM_004992.3(MECP2):c.*3878G>C rs148230889
NM_004992.3(MECP2):c.*393G>A rs267608361
NM_004992.3(MECP2):c.*4084_*4085GT[1] rs267608367
NM_004992.3(MECP2):c.*4576A>C rs3027920
NM_004992.3(MECP2):c.*487G>C rs267608325
NM_004992.3(MECP2):c.*489G>C rs111565519
NM_004992.3(MECP2):c.*529G>T rs267608362
NM_004992.3(MECP2):c.*5478_*5479AT[6] rs202139104
NM_004992.3(MECP2):c.*55C>G rs267608344
NM_004992.3(MECP2):c.*5839C>T rs267608368
NM_004992.3(MECP2):c.*7748C>T rs3027917
NM_004992.3(MECP2):c.*7856A>C rs3027915
NM_004992.3(MECP2):c.*806G>A rs267608363
NM_004992.3(MECP2):c.*831G>C rs190920575
NM_004992.3(MECP2):c.*8500C>G rs267608391
NM_004992.3(MECP2):c.*8503del rs267608360
NM_004992.3(MECP2):c.*8503dup rs267608360
NM_004992.3(MECP2):c.*875dup rs267608364
NM_004992.3(MECP2):c.*878C>G rs3027924
NM_004992.3(MECP2):c.*8C>T rs267608330
NM_004992.3(MECP2):c.*92C>T rs62621672
NM_004992.3(MECP2):c.*93G>A rs267608326
NM_004992.3(MECP2):c.*98dupA rs267608341
NM_004992.3(MECP2):c.*9G>A rs144008995
NM_004992.3(MECP2):c.-174A>C rs1557150926
NM_004992.3(MECP2):c.-187_-186delAG rs587783128
NM_004992.3(MECP2):c.-195T>G rs1335569199
NM_004992.3(MECP2):c.-203C>G rs1057524091
NM_004992.3(MECP2):c.-95C>G rs782519280
NM_004992.3(MECP2):c.-99+20C>A rs781969166
NM_004992.3(MECP2):c.-99+20C>G rs781969166
NM_004992.3(MECP2):c.1013C>G (p.Thr338Ser) rs786204313
NM_004992.3(MECP2):c.1029G>C (p.Gly343=) rs1057522816
NM_004992.3(MECP2):c.1035A>G (p.Lys345=) rs61752362
NM_004992.3(MECP2):c.1041G>A (p.Lys347=) rs1043854626
NM_004992.3(MECP2):c.1053C>G (p.Pro351=) rs782242577
NM_004992.3(MECP2):c.1060C>T (p.Arg354Cys) rs143876280
NM_004992.3(MECP2):c.1061G>A (p.Arg354His) rs61748387
NM_004992.3(MECP2):c.1061G>T (p.Arg354Leu) rs61748387
NM_004992.3(MECP2):c.1062C>T (p.Arg354=) rs782228941
NM_004992.3(MECP2):c.1065C>T (p.Ser355=) rs267608563
NM_004992.3(MECP2):c.1071C>T (p.Ser357=) rs61750236
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) rs61752371
NM_004992.3(MECP2):c.1081C>G (p.Pro361Ala) rs61752373
NM_004992.3(MECP2):c.1098_1100CCA[1] (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1115A>C (p.His372Pro) rs782019867
NM_004992.3(MECP2):c.1115_1201del (p.His372_Ser401delinsArg) rs1557135313
NM_004992.3(MECP2):c.1117T>C (p.Ser373Pro) rs782420258
NM_004992.3(MECP2):c.1118C>A (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1132G>A (p.Ala378Thr) rs587783106
NM_004992.3(MECP2):c.1132G>T (p.Ala378Ser) rs587783106
NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) rs201314910
NM_004992.3(MECP2):c.1134C>T (p.Ala378=) rs782751264
NM_004992.3(MECP2):c.1137C>T (p.Pro379=) rs61752980
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1140G>A (p.Val380=) rs201711454
NM_004992.3(MECP2):c.1141C>G (p.Pro381Ala) rs61752981
NM_004992.3(MECP2):c.1147C>T (p.Leu383Phe) rs1340029095
NM_004992.3(MECP2):c.1148_1159del (p.Leu383_Leu386del) rs782767712
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1157_1192del (p.Leu386_Asp398delinsHis) rs63749028
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1161_1163del (p.Pro391del) rs267608339
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1162_1167CCACCT[1] (p.Pro390_Pro391del) rs61753008
NM_004992.3(MECP2):c.1162_1179del (p.Pro388_Pro393del) rs267608406
NM_004992.3(MECP2):c.1168C>G (p.Pro390Ala) rs797045690
NM_004992.3(MECP2):c.1171C>G (p.Pro391Ala) rs781794820
NM_004992.3(MECP2):c.1176G>A (p.Glu392=) rs61753009
NM_004992.3(MECP2):c.1179C>T (p.Pro393=) rs781898011
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1180_1215del (p.Glu394_Pro405del) rs782746707
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1194C>T (p.Asp398=) rs782741920
NM_004992.3(MECP2):c.1195C>T (p.Pro399Ser) rs797045691
NM_004992.3(MECP2):c.1196C>T (p.Pro399Leu) rs62915962
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1202G>A (p.Ser401Asn) rs62707562
NM_004992.3(MECP2):c.1202G>C (p.Ser401Thr) rs62707562
NM_004992.3(MECP2):c.1203C>T (p.Ser401=) rs782230851
NM_004992.3(MECP2):c.1204C>A (p.Pro402Thr) rs150146088
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.1206C>T (p.Pro402=) rs63586860
NM_004992.3(MECP2):c.1215C>T (p.Pro405=) rs61753964
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1234G>A (p.Val412Ile) rs61753966
NM_004992.3(MECP2):c.1237T>C (p.Cys413Arg) rs797045692
NM_004992.3(MECP2):c.1239C>T (p.Cys413=) rs61753967
NM_004992.3(MECP2):c.1255C>T (p.Pro419Ser) rs140258520
NM_004992.3(MECP2):c.1266C>T (p.Gly422=) rs61753970
NM_004992.3(MECP2):c.1278C>T (p.Ser426=) rs267608619
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1284C>T (p.Gly428=) rs267608621
NM_004992.3(MECP2):c.1288C>T (p.Pro430Ser) rs267608622
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1317G>A (p.Ala439=) rs146632223
NM_004992.3(MECP2):c.1324A>G (p.Thr442Ala) rs61753974
NM_004992.3(MECP2):c.1326C>T (p.Thr442=) rs61751363
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1328C>T (p.Ala443Val) rs375101073
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1332C>T (p.Ala444=) rs1204809030
NM_004992.3(MECP2):c.1335G>A (p.Thr445=) rs3027927
NM_004992.3(MECP2):c.1338C>T (p.Ala446=) rs782496297
NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) rs267608626
NM_004992.3(MECP2):c.1372C>T (p.Arg458Cys) rs267608628
NM_004992.3(MECP2):c.1373G>A (p.Arg458His) rs185957513
NM_004992.3(MECP2):c.1400C>G (p.Pro467Arg) rs782042904
NM_004992.3(MECP2):c.1404G>A (p.Arg468=) rs267608633
NM_004992.3(MECP2):c.1412G>C (p.Arg471Thr) rs1057520310
NM_004992.3(MECP2):c.1422T>C (p.Pro474=) rs1557134910
NM_004992.3(MECP2):c.1430G>C (p.Ser477Thr) rs267608328
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.1436C>T (p.Thr479Met) rs267608635
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.1438C>T (p.Pro480Ser) rs267608636
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1446C>T (p.Thr482=) rs76895094
NM_004992.3(MECP2):c.1451G>C (p.Arg484Thr) rs267608370
NM_004992.3(MECP2):c.1461A>G (p.Ter487Trp) rs267608642
NM_004992.3(MECP2):c.153C>G (p.His51Gln) rs267608432
NM_004992.3(MECP2):c.155A>G (p.His52Arg) rs61754433
NM_004992.3(MECP2):c.168C>T (p.Pro56=) rs61754435
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.215C>T (p.Pro72Leu) rs61754440
NM_004992.3(MECP2):c.216G>A (p.Pro72=) rs781942427
NM_004992.3(MECP2):c.224C>T (p.Pro75Leu) rs267608440
NM_004992.3(MECP2):c.225G>A (p.Pro75=) rs61754442
NM_004992.3(MECP2):c.245A>G (p.Lys82Arg) rs61754444
NM_004992.3(MECP2):c.276A>G (p.Gly92=) rs140191561
NM_004992.3(MECP2):c.279C>T (p.Pro93=) rs267608447
NM_004992.3(MECP2):c.297C>G (p.Thr99=) rs61754450
NM_004992.3(MECP2):c.313A>C (p.Thr105Pro) rs1060499623
NM_004992.3(MECP2):c.362A>G (p.Asp121Gly) rs61755762
NM_004992.3(MECP2):c.365T>C (p.Val122Ala) rs267608456
NM_004992.3(MECP2):c.36G>C (p.Lys12Asn) rs61754422
NM_004992.3(MECP2):c.377+18C>G rs267608461
NM_004992.3(MECP2):c.377+22C>G rs2075597
NM_004992.3(MECP2):c.377+266T>C rs2075596
NM_004992.3(MECP2):c.377+28A>G rs185036026
NM_004992.3(MECP2):c.377+2dup rs1057518521
NM_004992.3(MECP2):c.377+30G>A rs786205014
NM_004992.3(MECP2):c.377+6_377+9delTAAG rs267608459
NM_004992.3(MECP2):c.377+95G>A rs267608460
NM_004992.3(MECP2):c.378-109A>G rs3850326
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.378-241C>T rs3027931
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.378-70C>G rs782440655
NM_004992.3(MECP2):c.378-74C>T rs2071569
NM_004992.3(MECP2):c.378T>C (p.Asn126=) rs782035249
NM_004992.3(MECP2):c.381C>G (p.Pro127=) rs782752095
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.420G>A (p.Ala140=) rs782082759
NM_004992.3(MECP2):c.426C>T (p.Phe142=) rs61748397
NM_004992.3(MECP2):c.431A>G (p.Lys144Arg) rs786205016
NM_004992.3(MECP2):c.439G>A (p.Asp147Asn) rs61748401
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.474G>A (p.Thr158=) rs61748413
NM_004992.3(MECP2):c.515C>T (p.Pro172Leu) rs267608491
NM_004992.3(MECP2):c.516A>G (p.Pro172=) rs1169814545
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.527C>G (p.Pro176Arg) rs61749701
NM_004992.3(MECP2):c.528C>T (p.Pro176=) rs61754420
NM_004992.3(MECP2):c.533C>G (p.Ser178Cys) rs782314807
NM_004992.3(MECP2):c.547G>C (p.Gly183Arg) rs61749706
NM_004992.3(MECP2):c.54C>A (p.Leu18=) rs372500343
NM_004992.3(MECP2):c.54C>G (p.Leu18=) rs372500343
NM_004992.3(MECP2):c.573C>T (p.Pro191=) rs61749710
NM_004992.3(MECP2):c.582C>T (p.Ser194=) rs61749711
NM_004992.3(MECP2):c.585C>T (p.Gly195=) rs61749712
NM_004992.3(MECP2):c.587C>G (p.Thr196Ser) rs61749713
NM_004992.3(MECP2):c.58G>C (p.Gly20Arg) rs1557138023
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.591G>A (p.Thr197=) rs61749716
NM_004992.3(MECP2):c.596C>G (p.Pro199Arg) rs267608502
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.603G>A (p.Ala201=) rs267608504
NM_004992.3(MECP2):c.605C>T (p.Ala202Val) rs587783138
NM_004992.3(MECP2):c.608C>T (p.Thr203Met) rs61749720
NM_004992.3(MECP2):c.609G>A (p.Thr203=) rs61749722
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.627G>A (p.Val209=) rs786205017
NM_004992.3(MECP2):c.633G>C (p.Arg211Ser) rs61749731
NM_004992.3(MECP2):c.660C>T (p.Leu220=) rs267608512
NM_004992.3(MECP2):c.661C>G (p.Leu221Val) rs782357529
NM_004992.3(MECP2):c.666C>G (p.Val222=) rs61749735
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.686C>T (p.Ser229Leu) rs61749739
NM_004992.3(MECP2):c.690A>C (p.Pro230=) rs61749740
NM_004992.3(MECP2):c.695G>A (p.Gly232Asp) rs61748422
NM_004992.3(MECP2):c.695G>C (p.Gly232Ala) rs61748422
NM_004992.3(MECP2):c.701C>A (p.Ala234Asp) rs138211345
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.714G>A (p.Gly238=) rs369813305
NM_004992.3(MECP2):c.717C>A (p.Ala239=) rs1057520963
NM_004992.3(MECP2):c.720C>G (p.Thr240=) rs61749746
NM_004992.3(MECP2):c.720C>T (p.Thr240=) rs61749746
NM_004992.3(MECP2):c.727A>G (p.Thr243Ala) rs782145652
NM_004992.3(MECP2):c.72A>G (p.Lys24=) rs782202329
NM_004992.3(MECP2):c.735C>G (p.Val245=) rs782027467
NM_004992.3(MECP2):c.748C>T (p.Arg250Cys) rs141382970
NM_004992.3(MECP2):c.749G>A (p.Arg250His) rs61750227
NM_004992.3(MECP2):c.750C>A (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.752C>T (p.Pro251Leu) rs61750229
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.795C>G (p.Pro265=) rs267608527
NM_004992.3(MECP2):c.810A>G (p.Arg270=) rs782743949
NM_004992.3(MECP2):c.815C>T (p.Pro272Leu) rs61750243
NM_004992.3(MECP2):c.816G>A (p.Pro272=) rs587783746
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.832G>A (p.Ala278Thr) rs782086416
NM_004992.3(MECP2):c.834C>T (p.Ala278=) rs61750248
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.841G>A (p.Ala281Thr) rs782239416
NM_004992.3(MECP2):c.843C>T (p.Ala281=) rs61750252
NM_004992.3(MECP2):c.849C>G (p.Ala283=) rs61750253
NM_004992.3(MECP2):c.857A>G (p.Lys286Arg) rs267608533
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.861C>T (p.Ala287=) rs139378224
NM_004992.3(MECP2):c.870G>A (p.Glu290=) rs587781032
NM_004992.3(MECP2):c.881G>C (p.Arg294Pro) rs61751366
NM_004992.3(MECP2):c.882A>G (p.Arg294=) rs782744332
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.903C>T (p.Leu301=) rs61751372
NM_004992.3(MECP2):c.906C>G (p.Pro302=) rs61751438
NM_004992.3(MECP2):c.911A>G (p.Lys304Arg) rs267608550
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.936C>T (p.Val312=) rs398124188
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.948C>G (p.Val316=) rs61751447
NM_004992.3(MECP2):c.984C>A (p.Leu328=) rs61751442
NM_004992.3(MECP2):c.984C>T (p.Leu328=) rs61751442
NM_004992.3(MECP2):c.985G>A (p.Gly329Ser) rs201871183
NM_004992.3(MECP2):c.992A>G (p.Lys331Arg) rs267608557
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_004992.3(MECP2):c.999G>T (p.Gly333=) rs61751451

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