ClinVar Miner

List of variants in gene MECP2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
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.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) rs587783133
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_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.*13C>T rs782334844
NM_004992.3(MECP2):c.*16A>G rs1057520854
NM_004992.3(MECP2):c.*1C>G rs781782964
NM_004992.3(MECP2):c.-174A>C rs1557150926
NM_004992.3(MECP2):c.-187_-186delAG rs587783128
NM_004992.3(MECP2):c.-189A>T rs1443487023
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.-98-157A>G
NM_004992.3(MECP2):c.-99+20C>A rs781969166
NM_004992.3(MECP2):c.-99+20C>G rs781969166
NM_004992.3(MECP2):c.-99+2T>G rs1557150841
NM_004992.3(MECP2):c.1001_1183del (p.Lys334_Glu394del) rs1557135547
NM_004992.3(MECP2):c.1006C>G (p.Leu336Val) rs587783104
NM_004992.3(MECP2):c.1007_1097delinsCTGTAAGTGCAC (p.Leu336fs) rs1557135901
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
NM_004992.3(MECP2):c.1029G>C (p.Gly343=) rs1057522816
NM_004992.3(MECP2):c.102del (p.Asp34fs) rs1557137983
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.1049G>A (p.Ser350Asn) rs1557136008
NM_004992.3(MECP2):c.1062C>T (p.Arg354=) rs782228941
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.1084C>T (p.Pro362Ser) rs782171742
NM_004992.3(MECP2):c.1085_1186delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro362fs) rs1557135516
NM_004992.3(MECP2):c.1086del (p.Lys363fs) rs587783092
NM_004992.3(MECP2):c.1086dup (p.Lys363fs) rs587783092
NM_004992.3(MECP2):c.1098_1100CCA[1] (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1098_1100CCA[2] (p.His372del) rs61752381
NM_004992.3(MECP2):c.1119dup (p.Glu374fs) rs1557135851
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1129_1198del (p.Lys377fs) rs1557135353
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.1135_1142del (p.Pro379fs) rs267608571
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>T (p.Pro381Ser) rs61752981
NM_004992.3(MECP2):c.1145_1171del (p.Leu382_Pro390del) rs587783094
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.1152_1171del (p.Pro384_Pro385insTer) rs1557135631
NM_004992.3(MECP2):c.1154C>A (p.Pro385His) rs111302745
NM_004992.3(MECP2):c.1155_1200del (p.Leu386fs) rs267608329
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1159_1174del (p.Pro387fs) rs267608373
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1160_1166del (p.Pro387fs) rs267608332
NM_004992.3(MECP2):c.1160_1200del (p.Pro387fs) rs267608592
NM_004992.3(MECP2):c.1161_1163del (p.Pro391del) rs267608339
NM_004992.3(MECP2):c.1161_1266del (p.Pro388fs) rs1557135140
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1162C>T (p.Pro388Ser) rs61753000
NM_004992.3(MECP2):c.1162_1163delinsTA (p.Pro388Ter) rs267608597
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.1163dup (p.Pro389fs) rs267608339
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1171C>G (p.Pro391Ala) rs781794820
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.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1194C>T (p.Asp398=) rs782741920
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.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.1208C>T (p.Pro403Leu) rs587783107
NM_004992.3(MECP2):c.1208dup (p.Pro403_Glu404insTer) rs781843758
NM_004992.3(MECP2):c.1209del (p.Glu404fs) rs1064796837
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1215C>T (p.Pro405=) rs61753964
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
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.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.1290dup (p.Lys431fs) rs587783095
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.1327G>A (p.Ala443Thr) rs193922677
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.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.136G>A (p.Val46Met) rs587783134
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.1419G>C (p.Glu473Asp) rs75498268
NM_004992.3(MECP2):c.1422T>C (p.Pro474=) rs1557134910
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.1437G>A (p.Thr479=) rs587781033
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.1447G>A (p.Glu483Lys) rs587777421
NM_004992.3(MECP2):c.168C>T (p.Pro56=) rs61754435
NM_004992.3(MECP2):c.20G>A (p.Gly7Glu) rs1057517905
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.225G>A (p.Pro75=) rs61754442
NM_004992.3(MECP2):c.253C>T (p.Arg85Cys) rs1064797047
NM_004992.3(MECP2):c.275del (p.Gly92fs) rs267608446
NM_004992.3(MECP2):c.276A>G (p.Gly92=) rs140191561
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.325A>G (p.Lys109Glu) rs886041732
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.353G>C (p.Gly118Ala) rs1557137672
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.376A>G (p.Asn126Asp) rs1064796513
NM_004992.3(MECP2):c.377+18C>G rs267608461
NM_004992.3(MECP2):c.377+2dup rs1057518521
NM_004992.3(MECP2):c.377+6_377+9delTAAG rs267608459
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.378T>C (p.Asn126=) rs782035249
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.398G>A (p.Arg133His) rs61748389
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.401C>T (p.Ser134Phe) rs61748390
NM_004992.3(MECP2):c.403A>G (p.Lys135Glu) rs61748391
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.454C>G (p.Pro152Ala) rs179363900
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.472A>G (p.Thr158Ala) rs61748411
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.480_481del (p.Gly161fs) rs267608486
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.516A>G (p.Pro172=) rs1169814545
NM_004992.3(MECP2):c.527C>G (p.Pro176Arg) rs61749701
NM_004992.3(MECP2):c.535C>G (p.Pro179Ala) rs1362774583
NM_004992.3(MECP2):c.54C>G (p.Leu18=) rs372500343
NM_004992.3(MECP2):c.553G>A (p.Gly185Ser) rs587783135
NM_004992.3(MECP2):c.556A>T (p.Arg186Ter) rs587783136
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
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.590C>T (p.Thr197Met) rs61749714
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.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.622C>T (p.Gln208Ter) rs61749729
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.686C>T (p.Ser229Leu) rs61749739
NM_004992.3(MECP2):c.687G>T (p.Ser229=) rs782461567
NM_004992.3(MECP2):c.690del (p.Gly232fs) rs1064793576
NM_004992.3(MECP2):c.691G>A (p.Gly231Arg) rs587783139
NM_004992.3(MECP2):c.695G>A (p.Gly232Asp) rs61748422
NM_004992.3(MECP2):c.701C>G (p.Ala234Gly) rs138211345
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>T (p.Thr240=) rs61749746
NM_004992.3(MECP2):c.727A>G (p.Thr243Ala) rs782145652
NM_004992.3(MECP2):c.750C>A (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.807_819dup (p.Ser274fs) rs587783091
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.815del (p.Pro272fs) rs1057518568
NM_004992.3(MECP2):c.819del (p.Ser274fs) rs267608530
NM_004992.3(MECP2):c.824T>C (p.Val275Ala) rs143989769
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.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.870G>A (p.Glu290=) rs587781032
NM_004992.3(MECP2):c.879C>G (p.Ile293Met) rs587783140
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.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.907A>G (p.Ile303Val) rs1057522038
NM_004992.3(MECP2):c.910A>C (p.Lys304Gln) rs61751440
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443
NM_004992.3(MECP2):c.919A>G (p.Lys307Glu) rs1131691480
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
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.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.984C>T (p.Leu328=) rs61751442
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_004992.3:c.-99+303_-99+304insC
NM_004992.3:c.377+266T>C

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