ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 389
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1097G>T (p.Arg366Leu) rs61748387 0.00008
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.*8500C>G rs267608391 0.00005
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.*767G>T rs267608354 0.00004
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.*92C>T rs62621672 0.00003
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.260C>T (p.Pro87Leu) rs267608440 0.00003
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) rs587783106 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys) rs1326849768 0.00002
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del) rs2065928263 0.00001
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr) rs1346803557 0.00001
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu) rs1557137994 0.00001
NM_001110792.2(MECP2):c.1238G>A (p.Ser413Asn) rs62707562 0.00001
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu) rs1557135085 0.00001
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978 0.00001
NM_001110792.2(MECP2):c.1394G>A (p.Arg465Gln) rs61753980 0.00001
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.290G>A (p.Arg97His) rs782226571 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val) rs1557137721 0.00001
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg) rs1392399136 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala) rs1557137072 0.00001
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu) rs782468872 0.00001
NM_001110792.2(MECP2):c.515C>G (p.Thr172Ser) rs61748414 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 0.00001
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) rs782789719 0.00001
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) rs782467549 0.00001
NM_001110792.2(MECP2):c.62+5380C>T rs267608324 0.00001
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) rs782735472 0.00001
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala) rs1209806388 0.00001
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser) rs782493538 0.00001
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala) rs1557138051 0.00001
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val) rs1181961523 0.00001
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys) rs1557136290 0.00001
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val) rs1557136286 0.00001
NC_000023.10:g.(?_153295726)_(153298028_?)dup
NC_000023.10:g.(?_153295818)_(153298028_?)dup
NC_000023.10:g.(?_153296122)_(153316446_?)dup
NC_000023.10:g.(?_153297634)_(153298028_?)dup
NC_000023.10:g.(?_153357622)_(153363122_?)dup
NM_001110792.2(MECP2):c.*1134G>A rs267608390
NM_001110792.2(MECP2):c.*122del rs267608342
NM_001110792.2(MECP2):c.*204G>A rs267608352
NM_001110792.2(MECP2):c.*4084GT[1] rs267608367
NM_001110792.2(MECP2):c.*875dup rs267608364
NM_001110792.2(MECP2):c.*92C>G rs62621672
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1026G>C (p.Glu342Asp)
NM_001110792.2(MECP2):c.1028A>G (p.Lys343Arg) rs267608557
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn)
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly) rs2148661618
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn) rs896762572
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) rs267608560
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) rs1569548372
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del) rs1603307609
NM_001110792.2(MECP2):c.1066C>G (p.Arg356Gly) rs61752361
NM_001110792.2(MECP2):c.1066_1231delinsGT (p.Arg356fs) rs1557135402
NM_001110792.2(MECP2):c.1072A>G (p.Ser358Gly)
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln) rs2148661453
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) rs1557134784
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp)
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) rs267608562
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1088C>T (p.Pro363Leu)
NM_001110792.2(MECP2):c.1093G>A (p.Gly365Arg)
NM_001110792.2(MECP2):c.1097_1192del (p.Arg366_Pro397del) rs1557135746
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn)
NM_001110792.2(MECP2):c.1101C>A (p.Ser367Arg) rs267608563
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser) rs147017239
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala)
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) rs61752373
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) rs61752373
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) rs786205032
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val) rs1603310890
NM_001110792.2(MECP2):c.112C>T (p.Leu38Phe)
NM_001110792.2(MECP2):c.1130A>G (p.Glu377Gly)
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp) rs2065928374
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) rs1557134819
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del)
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) rs61752381
NM_001110792.2(MECP2):c.1138C>G (p.His380Asp) rs781968415
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln)
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1143_1145del (p.His384del) rs2148661055
NM_001110792.2(MECP2):c.1146C>G (p.His382Gln) rs2065927241
NM_001110792.2(MECP2):c.1147C>T (p.His383Tyr) rs2148661028
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro) rs1557135080
NM_001110792.2(MECP2):c.1152C>G (p.His384Gln)
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) rs1557135279
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) rs1557135441
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del) rs2065924353
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn)
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del) rs2148660709
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del)
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) rs587783094
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del) rs2148659904
NM_001110792.2(MECP2):c.1184T>C (p.Leu395Pro) rs1060499622
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) rs267608575
NM_001110792.2(MECP2):c.1189C>A (p.Pro397Thr) rs782279709
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) rs786205033
NM_001110792.2(MECP2):c.1190C>G (p.Pro397Arg)
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del) rs2148660412
NM_001110792.2(MECP2):c.1191_1244del (p.Leu398_Pro415del) rs1557135259
NM_001110792.2(MECP2):c.1192_1233del (p.Leu398_Pro411del) rs267608579
NM_001110792.2(MECP2):c.1192_1236del (p.Leu398_Thr412del) rs267608581
NM_001110792.2(MECP2):c.1193_1228del (p.Leu398_Asp410delinsHis) rs63749028
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) rs1557134858
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) rs267608594
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) rs267608343
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del) rs1557134946
NM_001110792.2(MECP2):c.1198C>A (p.Pro400Thr) rs61753000
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) rs63749034
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) rs267608602
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) rs1557135234
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del) rs1557135539
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del) rs2148660070
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1202C>G (p.Pro401Arg)
NM_001110792.2(MECP2):c.1205C>T (p.Pro402Leu)
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) rs1603307813
NM_001110792.2(MECP2):c.1239C>G (p.Ser413Arg)
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del)
NM_001110792.2(MECP2):c.1243C>A (p.Pro415Thr)
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His) rs587783107
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1246G>A (p.Glu416Lys)
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) rs267608616
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr) rs2065909517
NM_001110792.2(MECP2):c.1269_1279del (p.Ser423fs) rs786205036
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) rs782598922
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del) rs781918838
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del) rs2065906988
NM_001110792.2(MECP2):c.1328A>C (p.Lys443Thr) rs2065906320
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly)
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
NM_001110792.2(MECP2):c.1351_1359dup (p.Ala451_Ala453dup) rs2065905269
NM_001110792.2(MECP2):c.1361C>A (p.Thr454Asn)
NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del)
NM_001110792.2(MECP2):c.1367C>T (p.Ala456Val)
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr)
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His) rs2065903736
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln)
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr) rs782747061
NM_001110792.2(MECP2):c.1429T>C (p.Ser477Pro)
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) rs267608632
NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu)
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) rs786205023
NM_001110792.2(MECP2):c.1453G>C (p.Glu485Gln)
NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu)
NM_001110792.2(MECP2):c.1466G>C (p.Ser489Thr) rs267608328
NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu)
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) rs587777421
NM_001110792.2(MECP2):c.1485G>A (p.Glu495=)
NM_001110792.2(MECP2):c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (p.Val497fs)
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys) rs2065987230
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly) rs1557137874
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
NM_001110792.2(MECP2):c.282A>G (p.Lys94=) rs2148666701
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) rs61754445
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr) rs2148770895
NM_001110792.2(MECP2):c.304G>C (p.Asp102His)
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) rs782177397
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu) rs2148666605
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.327C>A (p.Asp109Glu) rs61754449
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) rs2065984609
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.335T>G (p.Leu112Arg) rs61754451
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser) rs2065984147
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.346T>C (p.Trp116Arg) rs267608451
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg) rs2148666479
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe) rs1557137721
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.377G>C (p.Gly126Ala) rs61755760
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg)
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
NM_001110792.2(MECP2):c.394T>G (p.Tyr132Asp) rs267608454
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.401T>C (p.Val134Ala) rs267608456
NM_001110792.2(MECP2):c.408G>C (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.413+30G>A rs786205014
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) rs786205037
NM_001110792.2(MECP2):c.414-11T>A
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) rs61748384
NM_001110792.2(MECP2):c.424A>G (p.Lys142Glu)
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro)
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.42A>C (p.Gly14=)
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.434G>A (p.Arg145His) rs61748389
NM_001110792.2(MECP2):c.434G>T (p.Arg145Leu) rs61748389
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.437C>T (p.Ser146Phe) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg) rs2148770843
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) rs267608475
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) rs1233476760
NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)
NM_001110792.2(MECP2):c.465A>G (p.Glu155=) rs2065960775
NM_001110792.2(MECP2):c.467A>G (p.Lys156Arg) rs786205016
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) rs786205043
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.49G>A (p.Glu17Lys) rs786205046
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.507C>G (p.Phe169Leu) rs267608484
NM_001110792.2(MECP2):c.508A>G (p.Thr170Ala) rs61748411
NM_001110792.2(MECP2):c.515C>A (p.Thr172Asn)
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) rs61748417
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser) rs2148663974
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) rs61748426
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.556A>C (p.Lys186Gln)
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) rs61749701
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly) rs1557150848
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys)
NM_001110792.2(MECP2):c.62+18G>A
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+3G>C rs2148770726
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup) rs782003860
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.632C>A (p.Pro211His) rs267608502
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu)
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) rs61754421
NM_001110792.2(MECP2):c.659A>C (p.Gln220Pro)
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg) rs1603309169
NM_001110792.2(MECP2):c.663G>A (p.Val221=) rs786205017
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) rs61749730
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) rs267608509
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) rs786205894
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) rs878853313
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu) rs61749737
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp) rs587783139
NM_001110792.2(MECP2):c.72G>C (p.Lys24Asn) rs61754422
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val) rs138211345
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala) rs2065992065
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp)
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg)
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.788C>G (p.Pro263Arg)
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val)
NM_001110792.2(MECP2):c.809A>G (p.Glu270Gly)
NM_001110792.2(MECP2):c.814G>A (p.Asp272Asn)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.822G>C (p.Gln274His)
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.839G>A (p.Arg280Gln)
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg) rs61750243
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly)
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del)
NM_001110792.2(MECP2):c.871G>A (p.Ala291Thr)
NM_001110792.2(MECP2):c.871G>T (p.Ala291Ser)
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del) rs1569548405
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly) rs2148662326
NM_001110792.2(MECP2):c.886A>G (p.Lys296Glu) rs61750255
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn)
NM_001110792.2(MECP2):c.893A>G (p.Lys298Arg) rs267608533
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp)
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly) rs2148662194
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) rs61751360
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr) rs2065909561
NM_001110792.2(MECP2):c.907_930del (p.Ser303_Glu310del)
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu) rs61754425
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro) rs2148667246
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu)
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del) rs2065937019
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) rs267608545
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.93G>C (p.Gln31His) rs2148667234
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala) rs61751373
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>A (p.Pro314His) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.956_976del (p.Lys319_Ser325del)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) rs61751448
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3:c.(?_-226)_(*1_?)dup
NM_004992.4(MECP2):c.26+2T>A rs267608409

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