ClinVar Miner

List of variants in gene MECP2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 477
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HGVS dbSNP
GRCh38/hg38 Xq28(chrX:154022066-154044684)x1
GRCh38/hg38 Xq28(chrX:154022066-154065465)x1
GRCh38/hg38 Xq28(chrX:154024864-154029207)x1
GRCh38/hg38 Xq28(chrX:154030850-154034917)x1
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 240-BP DEL, NT1161
MECP2, 41-BP DEL, NT1157
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, 44-BP DEL, NT1159
MECP2, 52-BP DEL
MECP2, DUP
MECP2, IVS2AS, A-G, -2
NC_000023.10:g.(?_153287264)_(153363188_?)dup
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NC_000023.11:g.154030108_154030672del565 rs1557134621
NC_000023.11:g.154030554_154031128del575
NC_000023.11:g.154031347_154035447del4101
NC_000023.9:g.(?_139330000)_(154580000_?)dup
NC_000023.9:g.(?_152730000)_(153020000_?)dup
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) rs61751456
NM_001110792.1(MECP2):c.1043_1133del91insCTGTAAGTGCAC (p.Leu348Profs) rs1557135901
NM_001110792.1(MECP2):c.1043_1230del188 (p.Leu348Profs) rs1557135418
NM_001110792.1(MECP2):c.1055dup (p.Ser353Glufs) rs1557136059
NM_001110792.1(MECP2):c.1064_1194del131 (p.Gly355Alafs) rs1557135728
NM_001110792.1(MECP2):c.1084_1235del152 (p.Ser362Glnfs) rs1557135350
NM_001110792.1(MECP2):c.1121_1224del104insAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGCCC (p.Pro374Glnfs) rs1557135516
NM_001110792.1(MECP2):c.1165_*568delinsCCGTGG rs1557134378
NM_001110792.1(MECP2):c.1188_*29del339 rs1557134779
NM_001110792.1(MECP2):c.1193_*116del421 rs1557134720
NM_001110792.1(MECP2):c.1194_*3444del
NM_001110792.1(MECP2):c.1200_1220del21insCTGAGCCCCAGGACTTGAGCA (p.Pro401Ter) rs786205019
NM_001110792.1(MECP2):c.1200_1243del44 (p.Pro401Terfs) rs61752992
NM_001110792.1(MECP2):c.1202_1203insC (p.Pro402Serfs) rs797044733
NM_001110792.1(MECP2):c.1244dup (p.Glu416Terfs) rs781843758
NM_001110792.1(MECP2):c.1384dup (p.Tyr462Leufs) rs1557135004
NM_001110792.1(MECP2):c.1444_1447delAACAinsTG (p.Asn482Trpfs) rs786205023
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.1(MECP2):c.23_27dupCGCCG (p.Ser10Argfs) rs786205038
NM_001110792.1(MECP2):c.30_31del (p.Ser10Argfs) rs797045693
NM_001110792.1(MECP2):c.30delCinsGA (p.Ser10Argfs) rs786205040
NM_001110792.1(MECP2):c.414-3_419del rs267608466
NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)
NM_001110792.1(MECP2):c.41_57dup (p.Arg20Glufs) rs1557150846
NM_001110792.1(MECP2):c.445_1194del750 (p.Glu149_Leu398del) rs1557135739
NM_001110792.1(MECP2):c.47_57del11 (p.Gly16Glufs) rs786205042
NM_001110792.1(MECP2):c.47_57dup (p.Arg20Alafs)
NM_001110792.1(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.1(MECP2):c.48_55del8 (p.Glu18Thrfs) rs786205043
NM_001110792.1(MECP2):c.48_55dup (p.Glu19Alafs) rs786205043
NM_001110792.1(MECP2):c.520A>G (p.Arg174Gly) rs727505391
NM_001110792.1(MECP2):c.59_60delGA (p.Arg20Thrfs) rs786205047
NM_001110792.1(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.1(MECP2):c.62+1G>A rs786205048
NM_001110792.1(MECP2):c.62+2_62+3delTG rs786205049
NM_001110792.1(MECP2):c.647_648delCAinsAG (p.Ser216Ter) rs267608507
NM_001110792.1(MECP2):c.648dup (p.Glu217Argfs) rs1557136758
NM_001110792.1(MECP2):c.772_779delATGGTGATinsGTG (p.Met258Valfs) rs267608520
NM_001110792.1(MECP2):c.784_789delCGCCCCinsGGCCG (p.Arg262Glyfs) rs61750225
NM_001110792.1(MECP2):c.786delCinsTCAGGAAGCTT (p.Pro263Glnfs) rs267608521
NM_001110792.1(MECP2):c.802_815dup (p.Asp272Glufs) rs267608524
NM_001110792.1(MECP2):c.903_1259del357insA (p.Ser303Glnfs) rs1557135218
NM_001110792.1(MECP2):c.905_916delAGTCTTCTATCCinsCACA (p.Glu302Alafs) rs786205031
NM_001110792.1(MECP2):c.907_1080del174 (p.Ile305_Ser362del) rs1557136013
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.1(MECP2):c.934_1202del269 (p.Val312Serfs) rs1557135666
NM_001110792.1(MECP2):c.942_1174del233insAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.1(MECP2):c.998_1303del306insG (p.Lys333Serfs) rs1557135128
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.987dup (p.Glu330Glyfs)
NM_004992.3(MECP2):c.(?_-1)_(26_?)del
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del
NM_004992.3(MECP2):c.(?_-226)_26+?del
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_*(1_?)del
NM_004992.3(MECP2):c.(?_1336)_*(1_?)del
NM_004992.3(MECP2):c.(?_1367)_(1431_?)del (p.(?))
NM_004992.3(MECP2):c.(?_248)_(320_?)del (p.(?))
NM_004992.3(MECP2):c.(?_27)_(367_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1185_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_(1337_?)del (p.(?))
NM_004992.3(MECP2):c.(?_378)_*(1_?)del
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?))
NM_004992.3(MECP2):c.-98-?_377+?del
NM_004992.3(MECP2):c.-99+2T>G rs1557150841
NM_004992.3(MECP2):c.1009_1027del19 (p.Lys337Glyfs) rs267608559
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
NM_004992.3(MECP2):c.100_103delGATA (p.Asp34Argfs) rs61754428
NM_004992.3(MECP2):c.1012_1193del182 (p.Thr338Profs) rs1557135426
NM_004992.3(MECP2):c.1012_1202del191 (p.Thr338Profs) rs1557135300
NM_004992.3(MECP2):c.1024_1025insAG (p.Pro342Glnfs) rs1060499620
NM_004992.3(MECP2):c.1029delG (p.Arg344Glyfs) rs61751457
NM_004992.3(MECP2):c.102delT (p.Asp34Glufs) rs1557137983
NM_004992.3(MECP2):c.1030_1195del166insGT (p.Arg344Valfs) rs1557135402
NM_004992.3(MECP2):c.1038C>G (p.Ser346Arg) rs61752365
NM_004992.3(MECP2):c.1039_1195del157insGT (p.Lys347Valfs) rs1557135400
NM_004992.3(MECP2):c.1041_*29del450 rs1557134784
NM_004992.3(MECP2):c.1046_1206del161 (p.Ser349Thrfs) rs1557135268
NM_004992.3(MECP2):c.1052_1200del149 (p.Pro351Glnfs) rs1557135338
NM_004992.3(MECP2):c.1057_1219del163 (p.Gly353Thrfs) rs1557135225
NM_004992.3(MECP2):c.1065_1165del101 (p.Ser357Thrfs) rs1557135664
NM_004992.3(MECP2):c.1069_1071delAGC (p.Ser357del) rs267608564
NM_004992.3(MECP2):c.1078_*2524del2908
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.107_108delAA (p.Lys36Argfs) rs267608425
NM_004992.3(MECP2):c.107_113del7 (p.Lys36Argfs) rs267608424
NM_004992.3(MECP2):c.1086delC (p.Lys363Argfs) rs587783092
NM_004992.3(MECP2):c.1086dupC (p.Lys363Glnfs) rs587783092
NM_004992.3(MECP2):c.1087A>T (p.Lys363Ter) rs61752375
NM_004992.3(MECP2):c.1089_1129del41 (p.Lys364Glyfs) rs1064792898
NM_004992.3(MECP2):c.108_111delAGAA (p.Glu37Argfs) rs267608426
NM_004992.3(MECP2):c.1096_1201del106 (p.His366Alafs) rs1557135317
NM_004992.3(MECP2):c.1097_*13del378 rs1557134819
NM_004992.3(MECP2):c.1097_1203del107 (p.His366Profs) rs1557135285
NM_004992.3(MECP2):c.1099_1118del20 (p.His367Argfs) rs267608567
NM_004992.3(MECP2):c.1101_(1396_?)del (p.His(368_?)Alafs)
NM_004992.3(MECP2):c.1101_1201del101 (p.His367Glnfs) rs1557135315
NM_004992.3(MECP2):c.1105_1225del121 (p.His369Alafs) rs1557135213
NM_004992.3(MECP2):c.1105delC (p.His369Ilefs) rs267608568
NM_004992.3(MECP2):c.1111dup (p.His371Profs) rs1057519404
NM_004992.3(MECP2):c.1115_1326del212 (p.His372Argfs) rs1557135076
NM_004992.3(MECP2):c.1116_1201del86 (p.His372Glnfs) rs1557135314
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1119dup (p.Glu374Argfs) rs1557135851
NM_004992.3(MECP2):c.1121_1191del71 (p.Glu374Glyfs) rs1557135447
NM_004992.3(MECP2):c.1123_1202del80 (p.Ser375Profs) rs1557135299
NM_004992.3(MECP2):c.1127_1137del11 (p.Pro376Argfs) rs267608340
NM_004992.3(MECP2):c.1127_1179del53 (p.Pro376Argfs) rs1557135575
NM_004992.3(MECP2):c.1128_1179del52 (p.Lys377Argfs) rs1557135571
NM_004992.3(MECP2):c.1129_1193del65 (p.Lys377Profs) rs1557135423
NM_004992.3(MECP2):c.1129_1198del70 (p.Lys377Profs) rs1557135353
NM_004992.3(MECP2):c.1132_1202del71 (p.Ala378Profs) rs1557135295
NM_004992.3(MECP2):c.1135_1142delCCCGTGCC (p.Pro379Thrfs) rs267608571
NM_004992.3(MECP2):c.1137delC (p.Val380Cysfs) rs1557135793
NM_004992.3(MECP2):c.1137dup (p.Val380Argfs) rs1557135793
NM_004992.3(MECP2):c.1142_1227del86 (p.Pro381Glnfs) rs1557135212
NM_004992.3(MECP2):c.1145_1194del50 (p.Leu382Profs) rs267608573
NM_004992.3(MECP2):c.1146_*452del768 rs1557134481
NM_004992.3(MECP2):c.1150_1192del43 (p.Pro384Thrfs) rs63749023
NM_004992.3(MECP2):c.1151_1188del38 (p.Pro384Argfs) rs267608574
NM_004992.3(MECP2):c.1151_1191del41 (p.Pro384Argfs) rs63749024
NM_004992.3(MECP2):c.1152_1155del4 (p.Pro385Cysfs) rs267608576
NM_004992.3(MECP2):c.1152_1195del44 (p.Pro385Hisfs) rs267608372
NM_004992.3(MECP2):c.1153_1190del38 (p.Pro385Glyfs) rs267608577
NM_004992.3(MECP2):c.1154_1185del32 (p.Pro385Leufs) rs267608578
NM_004992.3(MECP2):c.1154_1186del (p.Leu386_Ser396del)
NM_004992.3(MECP2):c.1154_1190del37insAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro385Glnfs)
NM_004992.3(MECP2):c.1154_1197del44 (p.Pro385Hisfs) rs267608579
NM_004992.3(MECP2):c.1155_1183del29 (p.Pro387Argfs) rs267608580
NM_004992.3(MECP2):c.1155_1200del46 (p.Leu386Alafs) rs267608329
NM_004992.3(MECP2):c.1156_1157dupCT (p.Pro387Cysfs) rs267608584
NM_004992.3(MECP2):c.1156_1172del17 (p.Leu386Terfs) rs267608582
NM_004992.3(MECP2):c.1157_*944del1249
NM_004992.3(MECP2):c.1157_1187del31 (p.Leu386Profs) rs61754419
NM_004992.3(MECP2):c.1157_1188del32 (p.Leu386Argfs) rs267608585
NM_004992.3(MECP2):c.1157_1191del35 (p.Leu386Argfs) rs267608586
NM_004992.3(MECP2):c.1157_1197del41 (p.Leu386Hisfs) rs267608327
NM_004992.3(MECP2):c.1157_1199del43 (p.Leu386Profs) rs267608587
NM_004992.3(MECP2):c.1157_1200del44 (p.Leu386Glnfs) rs63749748
NM_004992.3(MECP2):c.1158_1167del10 (p.Pro387Hisfs) rs63583161
NM_004992.3(MECP2):c.1158_1186del29 (p.Pro387Argfs) rs63749029
NM_004992.3(MECP2):c.1158_1186del29insCCA (p.Pro387Hisfs) rs386134271
NM_004992.3(MECP2):c.1158_1198del41 (p.Pro387Glnfs) rs267608588
NM_004992.3(MECP2):c.1158_1200del43 (p.Pro387Alafs) rs63009262
NM_004992.3(MECP2):c.1159_1160delCCinsT (p.Pro387Serfs) rs267608590
NM_004992.3(MECP2):c.1159_1201del43 (p.Pro387Alafs) rs63749030
NM_004992.3(MECP2):c.1159_1210del52 (p.Pro387Serfs) rs1557135251
NM_004992.3(MECP2):c.1159_1458del300 (p.Pro387_Ser486del) rs1557134858
NM_004992.3(MECP2):c.1160_1166delCCCCACC (p.Pro387Leufs) rs267608332
NM_004992.3(MECP2):c.1160_1185del26 (p.Pro387Leufs) rs267608591
NM_004992.3(MECP2):c.1160_1188del29 (p.Pro387Argfs) rs267608593
NM_004992.3(MECP2):c.1160_1200del41 (p.Pro387Glnfs) rs267608592
NM_004992.3(MECP2):c.1161_1205del45insA (p.Pro389Terfs) rs267608596
NM_004992.3(MECP2):c.1161_1266del106 (p.Pro388Hisfs) rs1557135140
NM_004992.3(MECP2):c.1162_1163delCC (p.Pro388Thrfs) rs267608339
NM_004992.3(MECP2):c.1162_1163delCCinsTA (p.Pro388Ter) rs267608597
NM_004992.3(MECP2):c.1163_*39del338 rs1557134770
NM_004992.3(MECP2):c.1163_1179del17 (p.Pro388Argfs) rs267608601
NM_004992.3(MECP2):c.1163_1188del26 (p.Pro388Argfs) rs267608600
NM_004992.3(MECP2):c.1163_1197del35 (p.Pro388Hisfs) rs267608589
NM_004992.3(MECP2):c.1163_1283del121insAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388Glnfs) rs1557135110
NM_004992.3(MECP2):c.1164_1194del31 (p.Pro391Alafs) rs786205020
NM_004992.3(MECP2):c.1164_1206del43 (p.Pro389Leufs) rs267608603
NM_004992.3(MECP2):c.1164delA (p.Pro389Leufs) rs267608606
NM_004992.3(MECP2):c.1165_1190del26 (p.Pro389Glyfs) rs267608607
NM_004992.3(MECP2):c.1167_1200del34 (p.Pro390Alafs) rs267608343
NM_004992.3(MECP2):c.1170_1207del38 (p.Pro391Terfs) rs267608609
NM_004992.3(MECP2):c.117dupA (p.Glu40Argfs) rs267608427
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1180_1181insT (p.Glu394Valfs) rs786205021
NM_004992.3(MECP2):c.1180_1205del26 (p.Glu394Profs) rs267608333
NM_004992.3(MECP2):c.1189G>T (p.Glu397Ter) rs56268439
NM_004992.3(MECP2):c.1190dupA (p.Asp398Glyfs) rs267608610
NM_004992.3(MECP2):c.1194_1195insT (p.Pro399Serfs) rs61753011
NM_004992.3(MECP2):c.1196_1266del71 (p.Pro399Leufs) rs1557135137
NM_004992.3(MECP2):c.1197dupC (p.Thr400Hisfs) rs267608612
NM_004992.3(MECP2):c.119_120delAG (p.Glu40Glyfs) rs267608428
NM_004992.3(MECP2):c.1200dupC (p.Ser401Glnfs) rs267608613
NM_004992.3(MECP2):c.1202dupG (p.Ser401Argfs) rs267608614
NM_004992.3(MECP2):c.1209delT (p.Glu404Serfs) rs1064796837
NM_004992.3(MECP2):c.1214_1230del17 (p.Pro405Glnfs) rs267608615
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1223_1265del43 (p.Leu408Serfs) rs63749038
NM_004992.3(MECP2):c.1234_1337del104 (p.Val412Argfs) rs1557135039
NM_004992.3(MECP2):c.1235_1260del26 (p.Val412Glyfs) rs267608617
NM_004992.3(MECP2):c.1265_1289del25insAGCGGCCG (p.Gly422Glufs) rs63749064
NM_004992.3(MECP2):c.126dupG (p.His43Alafs) rs61754430
NM_004992.3(MECP2):c.1271_1416del146 (p.Leu424Argfs) rs1557134923
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1290_1291insC (p.Lys431Glnfs) rs587783095
NM_004992.3(MECP2):c.1308_1309delTC (p.Gln437Alafs) rs61753972
NM_004992.3(MECP2):c.1316_1317delCG (p.Ala439Glyfs) rs1557135091
NM_004992.3(MECP2):c.1320dupT (p.Ala441Cysfs) rs267608624
NM_004992.3(MECP2):c.1324_1364del41 (p.Thr442Glyfs) rs267608625
NM_004992.3(MECP2):c.1330_1342del13 (p.Ala444Lysfs) rs63749065
NM_004992.3(MECP2):c.1338_1343del (p.Ala447_Glu448del) rs786205022
NM_004992.3(MECP2):c.1357C>T (p.Arg453Ter) rs61753979
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.1364_1365insC (p.Glu455Aspfs) rs267608627
NM_004992.3(MECP2):c.140dupA (p.Pro48Alafs) rs61754431
NM_004992.3(MECP2):c.1415_1416delAG (p.Glu472Glyfs) rs267608634
NM_004992.3(MECP2):c.1450_*12del24 rs267608637
NM_004992.3(MECP2):c.1450_1453delAGAG (p.Arg484Leufs) rs267608638
NM_004992.3(MECP2):c.1452_1453dup (p.Val485Glufs) rs267608638
NM_004992.3(MECP2):c.1455_1456dupTA (p.Ser486Ilefs) rs267608641
NM_004992.3(MECP2):c.146C>A (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.146C>G (p.Ser49Ter) rs61754432
NM_004992.3(MECP2):c.167_168delCC (p.Pro56Argfs) rs267608434
NM_004992.3(MECP2):c.189_190delGA (p.Glu63Aspfs) rs61754436
NM_004992.3(MECP2):c.194C>G (p.Ser65Ter) rs61754437
NM_004992.3(MECP2):c.1A>T (p.Met1Leu) rs786205892
NM_004992.3(MECP2):c.201delG (p.Ser68Glnfs) rs61754438
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) rs267608438
NM_004992.3(MECP2):c.215_216insT (p.Ala73Glyfs) rs1557137871
NM_004992.3(MECP2):c.215del (p.Pro72Argfs) rs61754441
NM_004992.3(MECP2):c.215dupC (p.Ala73Glyfs) rs61754441
NM_004992.3(MECP2):c.229_238del10 (p.Ala77Profs) rs63749009
NM_004992.3(MECP2):c.233delC (p.Ser78Leufs) rs267608442
NM_004992.3(MECP2):c.243dupC (p.Lys82Glnfs) rs267608443
NM_004992.3(MECP2):c.249_250ins7
NM_004992.3(MECP2):c.258_259delCA (p.Ile87Hisfs) rs267608444
NM_004992.3(MECP2):c.26+2T>A rs267608409
NM_004992.3(MECP2):c.27-12521_*5072del
NM_004992.3(MECP2):c.27-2A>G rs267608412
NM_004992.3(MECP2):c.27-3928_1184del
NM_004992.3(MECP2):c.27-4722_*112delinsCACTTTGTG
NM_004992.3(MECP2):c.27-4722_*739delins43
NM_004992.3(MECP2):c.27-5774_902delinsGTGCCCGGACTGATGTCA
NM_004992.3(MECP2):c.27-6026_1190delinsGT
NM_004992.3(MECP2):c.27-6215_1190del
NM_004992.3(MECP2):c.27-6C>G rs267608411
NM_004992.3(MECP2):c.27-96_1205del
NM_004992.3(MECP2):c.274G>T (p.Gly92Ter) rs267608445
NM_004992.3(MECP2):c.275delG (p.Gly92Aspfs) rs267608446
NM_004992.3(MECP2):c.275dupG (p.Pro93Thrfs) rs267608446
NM_004992.3(MECP2):c.283_286del (p.Tyr95Metfs) rs1557137776
NM_004992.3(MECP2):c.28G>T (p.Glu10Ter) rs61754421
NM_004992.3(MECP2):c.295_297delACC (p.Thr99del) rs267608449
NM_004992.3(MECP2):c.298C>G (p.Leu100Val) rs28935168
NM_004992.3(MECP2):c.301C>T (p.Pro101Ser) rs61754452
NM_004992.3(MECP2):c.302C>A (p.Pro101His) rs61754453
NM_004992.3(MECP2):c.302C>G (p.Pro101Arg) rs61754453
NM_004992.3(MECP2):c.302C>T (p.Pro101Leu) rs61754453
NM_004992.3(MECP2):c.311G>A (p.Trp104Ter) rs61754455
NM_004992.3(MECP2):c.311_323del13 (p.Trp104Leufs) rs63749010
NM_004992.3(MECP2):c.315dupA (p.Arg106Thrfs) rs61754456
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.317G>A (p.Arg106Gln) rs61754457
NM_004992.3(MECP2):c.318_321dup (p.Leu108Glufs) rs786205025
NM_004992.3(MECP2):c.325A>G (p.Lys109Glu) rs886041732
NM_004992.3(MECP2):c.326dupA (p.Gln110Alafs) rs267608452
NM_004992.3(MECP2):c.341_349delGCCGCTCTG (p.Gly114_Ser116del) rs1557137675
NM_004992.3(MECP2):c.345delC (p.Ser116Leufs) rs61755761
NM_004992.3(MECP2):c.35_42dup (p.Asp15Serfs) rs63749008
NM_004992.3(MECP2):c.364G>A (p.Val122Met) rs267608455
NM_004992.3(MECP2):c.375delC (p.Asn126Ilefs) rs267608457
NM_004992.3(MECP2):c.377+1G>A rs267608463
NM_004992.3(MECP2):c.377+1G>T rs267608463
NM_004992.3(MECP2):c.378-2A>C rs267608464
NM_004992.3(MECP2):c.378-2A>G rs267608464
NM_004992.3(MECP2):c.378-2A>T rs267608464
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.382C>T (p.Gln128Ter) rs267608469
NM_004992.3(MECP2):c.382_1189del808 (p.Gln128Argfs) rs1557135463
NM_004992.3(MECP2):c.390delA (p.Ala131Profs) rs786205895
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.410A>G (p.Glu137Gly) rs61748392
NM_004992.3(MECP2):c.411delG (p.Glu137Aspfs) rs61748393
NM_004992.3(MECP2):c.413T>A (p.Leu138Ter) rs267608475
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.420delG (p.Tyr141Thrfs) rs267608476
NM_004992.3(MECP2):c.422dupA (p.Tyr141Terfs) rs61748394
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.428_429insT (p.Glu143Aspfs) rs61748398
NM_004992.3(MECP2):c.430A>T (p.Lys144Ter) rs61748399
NM_004992.3(MECP2):c.431delA (p.Lys144Argfs) rs61748400
NM_004992.3(MECP2):c.439delG (p.Asp147Thrfs) rs62952161
NM_004992.3(MECP2):c.451delG (p.Asp151Thrfs) rs61748402
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.464T>C (p.Phe155Ser) rs28934905
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.46C>T (p.Gln16Ter) rs61754424
NM_004992.3(MECP2):c.470_471delTC (p.Phe157Tyrfs) rs267608483
NM_004992.3(MECP2):c.470dupT (p.Thr158Hisfs) rs267608482
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.475delG (p.Val159Terfs) rs267608485
NM_004992.3(MECP2):c.47_57del (p.Gln16Argfs) rs797045694
NM_004992.3(MECP2):c.480_481delTG (p.Gly161Glufs) rs267608486
NM_004992.3(MECP2):c.480delT (p.Arg162Glufs) rs61748415
NM_004992.3(MECP2):c.481_987del507ins8
NM_004992.3(MECP2):c.483delG (p.Arg162Glufs) rs61748418
NM_004992.3(MECP2):c.484dupA (p.Arg162Lysfs) rs267608487
NM_004992.3(MECP2):c.488_1189del702 (p.Gly163_Ser396del) rs1557135461
NM_004992.3(MECP2):c.488_489delGG (p.Gly163Glufs) rs267608488
NM_004992.3(MECP2):c.495delC (p.Ser166Profs) rs267608489
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>A (p.Arg168=) rs61748421
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.508C>T (p.Gln170Ter) rs61748425
NM_004992.3(MECP2):c.50dupA (p.Asp17Glufs) rs267608416
NM_004992.3(MECP2):c.523A>T (p.Lys175Ter) rs61748428
NM_004992.3(MECP2):c.529A>T (p.Lys177Ter) rs61749702
NM_004992.3(MECP2):c.531delA (p.Lys177Asnfs) rs61749703
NM_004992.3(MECP2):c.538A>T (p.Lys180Ter) rs267608495
NM_004992.3(MECP2):c.543_544delTC (p.Pro182Argfs) rs267608496
NM_004992.3(MECP2):c.554delG (p.Gly185Alafs) rs61749707
NM_004992.3(MECP2):c.556A>T (p.Arg186Ter) rs587783136
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.566delG (p.Gly189Aspfs) rs61749708
NM_004992.3(MECP2):c.566dupG (p.Arg190Thrfs) rs61749708
NM_004992.3(MECP2):c.567dupA (p.Arg190Thrfs) rs61749709
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.56dupA (p.Leu21Profs) rs267608417
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.592A>T (p.Arg198Ter) rs61749717
NM_004992.3(MECP2):c.598A>T (p.Lys200Ter) rs61749718
NM_004992.3(MECP2):c.601dupG (p.Ala201Glyfs) rs267608503
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.608_609insA (p.Ser204Valfs) rs267608506
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.613G>T (p.Glu205Ter) rs61749726
NM_004992.3(MECP2):c.616_1122del507 (p.Gly206_Glu374del) rs1557135847
NM_004992.3(MECP2):c.617delG (p.Gly206Valfs) rs61749727
NM_004992.3(MECP2):c.620dupT (p.Gln208Alafs) rs61749728
NM_004992.3(MECP2):c.622C>T (p.Gln208Ter) rs61749729
NM_004992.3(MECP2):c.64A>T (p.Lys22Ter) rs62641234
NM_004992.3(MECP2):c.651_652delTG (p.Gly218Glufs) rs267608510
NM_004992.3(MECP2):c.654_657delGAAG (p.Lys219Serfs) rs61749734
NM_004992.3(MECP2):c.665_671dup (p.Met224Ilefs) rs797045695
NM_004992.3(MECP2):c.673C>A (p.Pro225Thr) rs267608513
NM_004992.3(MECP2):c.674C>G (p.Pro225Arg) rs61749715
NM_004992.3(MECP2):c.674C>T (p.Pro225Leu) rs61749715
NM_004992.3(MECP2):c.676_677insA (p.Phe226Tyrfs) rs267608514
NM_004992.3(MECP2):c.677_678insA (p.Phe226Leufs) rs61749736
NM_004992.3(MECP2):c.678delT (p.Gln227Lysfs) rs1060499621
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) rs61749739
NM_004992.3(MECP2):c.689_756del68 (p.Pro230Glnfs) rs1557136493
NM_004992.3(MECP2):c.690delA (p.Gly232Alafs) rs1064793576
NM_004992.3(MECP2):c.695delG (p.Gly232Alafs) rs63260260
NM_004992.3(MECP2):c.695dupG (p.Lys233Glnfs) rs63260260
NM_004992.3(MECP2):c.696delC (p.Lys233Argfs) rs61749741
NM_004992.3(MECP2):c.710delG (p.Gly237Valfs) rs61749743
NM_004992.3(MECP2):c.710dupG (p.Gly238Trpfs) rs61749743
NM_004992.3(MECP2):c.711_1269del559 (p.Gly238Trpfs) rs1557135125
NM_004992.3(MECP2):c.715delG (p.Ala239Profs) rs61749744
NM_004992.3(MECP2):c.720dupC (p.Thr241Hisfs) rs267608518
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.731_1166del436 (p.Gln244Leufs) rs1557135670
NM_004992.3(MECP2):c.734_759del26 (p.Val245Glufs) rs267608519
NM_004992.3(MECP2):c.736_737insAT (p.Met246Asnfs) rs61749749
NM_004992.3(MECP2):c.739delG (p.Val247Terfs) rs61749750
NM_004992.3(MECP2):c.747_751dup (p.Pro251Hisfs) rs1557136523
NM_004992.3(MECP2):c.748_749insT (p.Arg250Leufs) rs1557136549
NM_004992.3(MECP2):c.748dupC (p.Arg250Profs) rs61749752
NM_004992.3(MECP2):c.750_774dup (p.Ala259Profs) rs1064797104
NM_004992.3(MECP2):c.752_753dupCC (p.Gly252Profs) rs61749751
NM_004992.3(MECP2):c.753delC (p.Gly252Alafs) rs61749751
NM_004992.3(MECP2):c.753dupC (p.Gly252Argfs) rs61749751
NM_004992.3(MECP2):c.755delG (p.Gly252Alafs) rs61750232
NM_004992.3(MECP2):c.755dupG (p.Arg253Glnfs) rs61750232
NM_004992.3(MECP2):c.756_759delCAGG (p.Arg253Serfs) rs267608523
NM_004992.3(MECP2):c.756_763dup (p.Arg255Profs) rs61750235
NM_004992.3(MECP2):c.760A>T (p.Lys254Ter) rs63259763
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.764_765ins8
NM_004992.3(MECP2):c.765_1158del394 (p.Lys256Profs) rs1557135734
NM_004992.3(MECP2):c.766A>T (p.Lys256Ter) rs786205027
NM_004992.3(MECP2):c.767_1175del409 (p.Lys256Serfs) rs1557135596
NM_004992.3(MECP2):c.76delC (p.Leu26Serfs) rs61754426
NM_004992.3(MECP2):c.784C>T (p.Gln262Ter) rs267608525
NM_004992.3(MECP2):c.785_818del34 (p.Gln262Argfs) rs786205028
NM_004992.3(MECP2):c.792_793delTC (p.Pro265Glnfs) rs267608526
NM_004992.3(MECP2):c.799A>T (p.Lys267Ter) rs61750238
NM_004992.3(MECP2):c.806delG (p.Gly269Alafs) rs61750241
NM_004992.3(MECP2):c.807_*125del780 rs1557134716
NM_004992.3(MECP2):c.808C>T (p.Arg270Ter) rs61750240
NM_004992.3(MECP2):c.808delC (p.Arg270Glufs) rs62931162
NM_004992.3(MECP2):c.810_813delAAAG (p.Lys271Argfs) rs267608529
NM_004992.3(MECP2):c.812_818del7 (p.Lys271Argfs) rs61750242
NM_004992.3(MECP2):c.816_832del17 (p.Gly273Argfs) rs63749012
NM_004992.3(MECP2):c.819_820insCCGAAAGCCGGGG (p.Ser274Profs) rs587783091
NM_004992.3(MECP2):c.819delG (p.Ser274Valfs) rs267608530
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.821_822delGT (p.Val275Glyfs) rs1557136374
NM_004992.3(MECP2):c.822_1184del363 (p.Val275_Ser395del) rs1557135541
NM_004992.3(MECP2):c.830_831ins23 (p.?)
NM_004992.3(MECP2):c.830delC (p.Ala277Glufs) rs61750247
NM_004992.3(MECP2):c.834_939del106 (p.Ala279Serfs) rs1557136146
NM_004992.3(MECP2):c.840delC (p.Ala281Profs) rs1557136332
NM_004992.3(MECP2):c.849_1236del388 (p.Lys284Alafs) rs1557135197
NM_004992.3(MECP2):c.851_1188del338 (p.Lys284Argfs) rs1557135499
NM_004992.3(MECP2):c.854dupA (p.Lys286Glufs) rs267608531
NM_004992.3(MECP2):c.855_859delGAAAGinsAAAAAAAAGACT (p.Ala287Lysfs) rs786205030
NM_004992.3(MECP2):c.856_859delAAAG (p.Lys286Profs) rs61750256
NM_004992.3(MECP2):c.864dupG (p.Lys289Glufs) rs267608535
NM_004992.3(MECP2):c.865A>T (p.Lys289Ter) rs61750259
NM_004992.3(MECP2):c.865_866delAA (p.Lys289Glyfs) rs267608536
NM_004992.3(MECP2):c.869dupA (p.Ser291Valfs) rs267608538
NM_004992.3(MECP2):c.874_875insA (p.Ser292Tyrfs) rs61751361
NM_004992.3(MECP2):c.880_884del5 (p.Arg294Cysfs) rs61751364
NM_004992.3(MECP2):c.881_902del22 (p.Arg294Profs) rs267608540
NM_004992.3(MECP2):c.883delT (p.Ser295Leufs) rs267608541
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) rs61751367
NM_004992.3(MECP2):c.894_1095del202 (p.Glu298Aspfs) rs1557135907
NM_004992.3(MECP2):c.898_1099del202 (p.Val300Thrfs) rs1557135893
NM_004992.3(MECP2):c.898_901del (p.Val300Serfs) rs62701461
NM_004992.3(MECP2):c.898_904del7 (p.Val300Profs) rs267608543
NM_004992.3(MECP2):c.898delG (p.Val300Tyrfs) rs267608544
NM_004992.3(MECP2):c.905C>G (p.Pro302Arg) rs61749723
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.906delC (p.Ile303Serfs) rs267608548
NM_004992.3(MECP2):c.910A>C (p.Lys304Gln) rs61751440
NM_004992.3(MECP2):c.914_1172del259 (p.Lys305Metfs) rs1557135622
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.91delG (p.Val31Terfs) rs61754427
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.943_1140del198ins6
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449
NM_004992.3(MECP2):c.965C>T (p.Pro322Leu) rs61751450
NM_004992.3(MECP2):c.994_1346del353 (p.Ser332Valfs) rs1557135016
NM_004992.3(MECP2):c.994_998delAGCGG (p.Ser332Glufs) rs267608558
NM_004992.3(MECP2):c.997_1001delGGGAA (p.Gly333Argfs)
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
NM_004992.3:c.(?_184)_(1065_?)del
NM_004992.3:c.(?_27)_(*1_?)del
NM_004992.3:c.(?_27)_(*8554_?)del
NM_004992.3:c.(?_27)_(1018_?)del
NM_004992.3:c.(?_27)_(1021_?)del
NM_004992.3:c.(?_27)_(1029_?)del
NM_004992.3:c.(?_27)_(1170_?)del
NM_004992.3:c.(?_27)_(1185_?)del
NM_004992.3:c.(?_27)_(1337_?)del
NM_004992.3:c.(?_27)_(1397_?)del
NM_004992.3:c.(?_27)_(378_1461)del
NM_004992.3:c.(?_27)_(378_?)del
NM_004992.3:c.343_1182del
NM_004992.3:c.59delG
NM_004992.3:c.614_615delAG
NM_004992.3:c.881_1172del292

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