ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for Rett syndrome

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Gene type:
ClinVar version:
Total variants: 382
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HGVS dbSNP
MECP2, 1-BP DEL, 76C
MECP2, 1-BP DEL, 806G
MECP2, 11-BP DEL, EX1
MECP2, 41-BP DEL, NT1159
MECP2, 44-BP DEL, NT1152
MECP2, IVS2AS, A-G, -2
NM_001110792.1(MECP2):c.(?_1)_(62_?)del (p.(?))
NM_001110792.1(MECP2):c.1025_10320delAGAAGAinsGCATCTTCTCCTCTTT (p.?) rs61751456
NM_001110792.1(MECP2):c.1193_*116del421 rs1557134720
NM_001110792.1(MECP2):c.414_1497del1084 (p.Pro139Phefs)
NM_001110792.1(MECP2):c.62+2_62+3delTG rs786205049
NM_001110792.1:c.384_1164del
NM_001110792.2(MECP2):c.18_22CGCCG[3] (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs) rs797045693
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.48_55del (p.Glu18fs) rs786205043
NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs) rs786205043
NM_001110792.2(MECP2):c.55_56GA[2] (p.Arg20fs) rs786205047
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
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.(?_-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.1007_1194del (p.Leu336fs) rs1557135418
NM_004992.3(MECP2):c.1009_1027del (p.Lys337fs) rs267608559
NM_004992.3(MECP2):c.100_103del (p.Asp34fs) rs61754428
NM_004992.3(MECP2):c.1012_1193del (p.Thr338fs) rs1557135426
NM_004992.3(MECP2):c.1012_1202del (p.Thr338fs) rs1557135300
NM_004992.3(MECP2):c.1024_1025insAG (p.Pro342fs) rs1060499620
NM_004992.3(MECP2):c.1028_1158del (p.Gly343fs) rs1557135728
NM_004992.3(MECP2):c.1029del (p.Arg344fs) rs61751457
NM_004992.3(MECP2):c.1030_1195delinsGT (p.Arg344fs) rs1557135402
NM_004992.3(MECP2):c.1038C>G (p.Ser346Arg) rs61752365
NM_004992.3(MECP2):c.1039_1195delinsGT (p.Lys347fs) rs1557135400
NM_004992.3(MECP2):c.1046_1206del (p.Ser349fs) rs1557135268
NM_004992.3(MECP2):c.1048_1199del (p.Ser350fs) rs1557135350
NM_004992.3(MECP2):c.104_107AGAA[1] (p.Glu37fs) rs267608426
NM_004992.3(MECP2):c.1052_1200del (p.Pro351fs) rs1557135338
NM_004992.3(MECP2):c.1057_1219del (p.Gly353fs) rs1557135225
NM_004992.3(MECP2):c.1063_1065AGC[2] (p.Ser357del) rs267608564
NM_004992.3(MECP2):c.1066_1166del (p.Ser357fs) rs1557135664
NM_004992.3(MECP2):c.1078_*2524del (p.Ser360fs)
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.107_108del (p.Lys36fs) rs267608425
NM_004992.3(MECP2):c.107_113del (p.Lys36fs) rs267608424
NM_004992.3(MECP2):c.1087A>T (p.Lys363Ter) rs61752375
NM_004992.3(MECP2):c.1089_1129del (p.Lys364fs) rs1064792898
NM_004992.3(MECP2):c.1096_1201del (p.His366fs) rs1557135317
NM_004992.3(MECP2):c.1097_*13del (p.His366_Ter487delinsXaa) rs1557134819
NM_004992.3(MECP2):c.1097_1203del (p.His366fs) rs1557135285
NM_004992.3(MECP2):c.1099_1118del (p.His367fs) rs267608567
NM_004992.3(MECP2):c.1101_(1396_?)del (p.His(368_?)Alafs)
NM_004992.3(MECP2):c.1101_1201del (p.His367fs) rs1557135315
NM_004992.3(MECP2):c.1105_1225del (p.His369fs) rs1557135213
NM_004992.3(MECP2):c.1115_1326del (p.His372fs) rs1557135076
NM_004992.3(MECP2):c.1116_1201del (p.His372fs) rs1557135314
NM_004992.3(MECP2):c.1118C>G (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1121_1191del (p.Glu374fs) rs1557135447
NM_004992.3(MECP2):c.1123_1202del (p.Ser375fs) rs1557135299
NM_004992.3(MECP2):c.1127_1137del (p.Pro376fs) rs267608340
NM_004992.3(MECP2):c.1127_1179del (p.Pro376fs) rs1557135575
NM_004992.3(MECP2):c.1129_*568delinsCCGTGG (p.Lys377fs) rs1557134378
NM_004992.3(MECP2):c.1132_1202del (p.Ala378fs) rs1557135295
NM_004992.3(MECP2):c.1137dup (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1142_1227del (p.Pro381fs) rs1557135212
NM_004992.3(MECP2):c.1145_1194del (p.Leu382fs) rs267608573
NM_004992.3(MECP2):c.1146_*452del (p.Leu382_Ter487delinsXaa) rs1557134481
NM_004992.3(MECP2):c.1150_1192del (p.Pro384fs) rs63749023
NM_004992.3(MECP2):c.1151_1188del (p.Pro384fs) rs267608574
NM_004992.3(MECP2):c.1151_1191del (p.Pro384fs) rs63749024
NM_004992.3(MECP2):c.1152_*29del (p.Pro384_Ter487delinsXaa) rs1557134779
NM_004992.3(MECP2):c.1152_1155del (p.Pro385fs) rs267608576
NM_004992.3(MECP2):c.1152_1195del (p.Pro385fs) rs267608372
NM_004992.3(MECP2):c.1153_1190del (p.Pro385fs) rs267608577
NM_004992.3(MECP2):c.1154_1185del (p.Pro385fs) rs267608578
NM_004992.3(MECP2):c.1154_1197del (p.Pro385fs) rs267608579
NM_004992.3(MECP2):c.1155_1183del (p.Pro387fs) rs267608580
NM_004992.3(MECP2):c.1155_1200del (p.Leu386fs) rs267608329
NM_004992.3(MECP2):c.1156_1157dup (p.Pro387fs) rs267608584
NM_004992.3(MECP2):c.1156_1172del (p.Pro385_Leu386insTer) rs267608582
NM_004992.3(MECP2):c.1157_*944del (p.Leu386fs)
NM_004992.3(MECP2):c.1157_1187del (p.Leu386fs) rs61754419
NM_004992.3(MECP2):c.1157_1188del (p.Leu386fs) rs267608585
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1199del (p.Leu386fs) rs267608587
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1158_*261del (p.Pro387fs) rs1557134621
NM_004992.3(MECP2):c.1158_1167del (p.Pro387fs) rs63583161
NM_004992.3(MECP2):c.1158_1186del (p.Pro387fs) rs63749029
NM_004992.3(MECP2):c.1158_1186delinsCCA (p.Pro387fs) rs386134271
NM_004992.3(MECP2):c.1158_1198del (p.Pro387fs) rs267608588
NM_004992.3(MECP2):c.1158_1200del (p.Pro387fs) rs63009262
NM_004992.3(MECP2):c.1159_1160delinsT (p.Pro387fs) rs267608590
NM_004992.3(MECP2):c.1159_1201del (p.Pro387fs) rs63749030
NM_004992.3(MECP2):c.1159_1458del (p.Pro387_Ser486del) rs1557134858
NM_004992.3(MECP2):c.1160_1166del (p.Pro387fs) rs267608332
NM_004992.3(MECP2):c.1160_1185del (p.Pro387fs) rs267608591
NM_004992.3(MECP2):c.1160_1188del (p.Pro387fs) rs267608593
NM_004992.3(MECP2):c.1160_1200del (p.Pro387fs) rs267608592
NM_004992.3(MECP2):c.1161_1205delinsA (p.Pro388_Pro389insTer) rs267608596
NM_004992.3(MECP2):c.1163_*39del (p.Pro388fs) rs1557134770
NM_004992.3(MECP2):c.1163_1179del (p.Pro388fs) rs267608601
NM_004992.3(MECP2):c.1163_1188del (p.Pro388fs) rs267608600
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.1163_1283delinsAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCA (p.Pro388_Gly428delinsGlnTer) rs1557135110
NM_004992.3(MECP2):c.1164_1184delinsCTGAGCCCCAGGACTTGAGCA (p.Pro389_Ser395delinsTer) rs786205019
NM_004992.3(MECP2):c.1164_1194del (p.Pro391fs) rs786205020
NM_004992.3(MECP2):c.1164_1206del (p.Pro389fs) rs267608603
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1164del (p.Pro389fs) rs267608606
NM_004992.3(MECP2):c.1165_1190del (p.Pro389fs) rs267608607
NM_004992.3(MECP2):c.1167_1200del (p.Pro390fs) rs267608343
NM_004992.3(MECP2):c.1170_1207del (p.Pro390_Pro391insTer) rs267608609
NM_004992.3(MECP2):c.117_118AG[1] (p.Glu40fs) rs267608428
NM_004992.3(MECP2):c.117dup (p.Glu40fs) rs267608427
NM_004992.3(MECP2):c.1180G>T (p.Glu394Ter) rs63094662
NM_004992.3(MECP2):c.1180_1181insT (p.Glu394fs) rs786205021
NM_004992.3(MECP2):c.1180_1205del (p.Glu394fs) rs267608333
NM_004992.3(MECP2):c.1189G>T (p.Glu397Ter) rs56268439
NM_004992.3(MECP2):c.1190dup (p.Asp398fs) rs267608610
NM_004992.3(MECP2):c.1194_1195insT (p.Pro399fs) rs61753011
NM_004992.3(MECP2):c.1196_1266del (p.Pro399fs) rs1557135137
NM_004992.3(MECP2):c.1197dup (p.Thr400fs) rs267608612
NM_004992.3(MECP2):c.1200dup (p.Ser401fs) rs267608613
NM_004992.3(MECP2):c.1202dup (p.Ser401fs) rs267608614
NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) rs61753965
NM_004992.3(MECP2):c.1223_1265del (p.Leu408fs) rs63749038
NM_004992.3(MECP2):c.1234_1337del (p.Val412fs) rs1557135039
NM_004992.3(MECP2):c.1235_1260del (p.Val412fs) rs267608617
NM_004992.3(MECP2):c.1265_1289delinsAGCGGCCG (p.Gly422fs) rs63749064
NM_004992.3(MECP2):c.126dup (p.His43fs) rs61754430
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.1308_1309del (p.Gln437fs) rs61753972
NM_004992.3(MECP2):c.1320dup (p.Ala441fs) rs267608624
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.Glu455fs) rs267608627
NM_004992.3(MECP2):c.1408_1411delinsTG (p.Asn470fs) rs786205023
NM_004992.3(MECP2):c.140dup (p.Pro48fs) rs61754431
NM_004992.3(MECP2):c.1448_1449AG[1] (p.Arg484fs) rs267608638
NM_004992.3(MECP2):c.1448_1449AG[4] (p.Val485fs) rs267608638
NM_004992.3(MECP2):c.1450_*12del (p.Arg484_Ter487del) rs267608637
NM_004992.3(MECP2):c.1455_1456dup (p.Ser486fs) 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_168del (p.Pro56fs) rs267608434
NM_004992.3(MECP2):c.187_188GA[1] (p.Glu63fs) 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.201del (p.Ser68fs) rs61754438
NM_004992.3(MECP2):c.203C>G (p.Ser68Ter) rs267608438
NM_004992.3(MECP2):c.215_216insT (p.Ala73fs) rs1557137871
NM_004992.3(MECP2):c.215del (p.Pro72fs) rs61754441
NM_004992.3(MECP2):c.215dup (p.Ala73fs) rs61754441
NM_004992.3(MECP2):c.233del (p.Ser78fs) rs267608442
NM_004992.3(MECP2):c.243dup (p.Lys82fs) rs267608443
NM_004992.3(MECP2):c.258_259del (p.Ile87fs) 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.27-94_1207del
NM_004992.3(MECP2):c.274G>T (p.Gly92Ter) rs267608445
NM_004992.3(MECP2):c.275dup (p.Pro93fs) rs267608446
NM_004992.3(MECP2):c.28G>T (p.Glu10Ter) rs61754421
NM_004992.3(MECP2):c.295_297del (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_323del (p.Trp104fs) rs63749010
NM_004992.3(MECP2):c.315dup (p.Arg106fs) 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.Leu108fs) rs786205025
NM_004992.3(MECP2):c.326dup (p.Gln110fs) rs267608452
NM_004992.3(MECP2):c.341_349del (p.Gly114_Ser116del) rs1557137675
NM_004992.3(MECP2):c.345del (p.Ser116fs) rs61755761
NM_004992.3(MECP2):c.35_42dup (p.Asp15fs) rs63749008
NM_004992.3(MECP2):c.375del (p.Asn126fs) 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_1189del (p.Gln128fs) rs1557135463
NM_004992.3(MECP2):c.390del (p.Ala131fs) rs786205895
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.401C>G (p.Ser134Cys) rs61748390
NM_004992.3(MECP2):c.409_1158del (p.Glu137_Leu386del) rs1557135739
NM_004992.3(MECP2):c.411del (p.Glu137fs) 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.420del (p.Tyr141fs) rs267608476
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.428_429insT (p.Glu143fs) rs61748398
NM_004992.3(MECP2):c.430A>T (p.Lys144Ter) rs61748399
NM_004992.3(MECP2):c.431del (p.Lys144fs) rs61748400
NM_004992.3(MECP2):c.439del (p.Asp147fs) rs62952161
NM_004992.3(MECP2):c.451del (p.Asp151fs) rs61748402
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.470_471del (p.Phe157fs) rs267608483
NM_004992.3(MECP2):c.470dup (p.Thr158fs) rs267608482
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.475del (p.Thr158_Val159insTer) rs267608485
NM_004992.3(MECP2):c.47_57del (p.Gln16fs) rs797045694
NM_004992.3(MECP2):c.480_481del (p.Gly161fs) rs267608486
NM_004992.3(MECP2):c.480del (p.Arg162fs) rs61748415
NM_004992.3(MECP2):c.481_987del507ins8
NM_004992.3(MECP2):c.483del (p.Arg162fs) rs61748418
NM_004992.3(MECP2):c.484A>G (p.Arg162Gly) rs727505391
NM_004992.3(MECP2):c.484dup (p.Arg162fs) rs267608487
NM_004992.3(MECP2):c.488_1189del (p.Gly163_Ser396del) rs1557135461
NM_004992.3(MECP2):c.488_489del (p.Gly163fs) rs267608488
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.50dup (p.Asp17fs) rs267608416
NM_004992.3(MECP2):c.531del (p.Lys177fs) rs61749703
NM_004992.3(MECP2):c.538A>T (p.Lys180Ter) rs267608495
NM_004992.3(MECP2):c.543_544del (p.Pro182fs) rs267608496
NM_004992.3(MECP2):c.554del (p.Gly185fs) rs61749707
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.566del (p.Gly189fs) rs61749708
NM_004992.3(MECP2):c.566dup (p.Arg190fs) rs61749708
NM_004992.3(MECP2):c.567dup (p.Arg190fs) rs61749709
NM_004992.3(MECP2):c.56dup (p.Leu21fs) 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.59del (p.Gly20fs)
NM_004992.3(MECP2):c.601dup (p.Ala201fs) rs267608503
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.608_609insA (p.Ser204fs) rs267608506
NM_004992.3(MECP2):c.611C>G (p.Ser204Ter) rs61749724
NM_004992.3(MECP2):c.611_612delinsAG (p.Ser204Ter) rs267608507
NM_004992.3(MECP2):c.612_613AG[1] (p.Glu205fs)
NM_004992.3(MECP2):c.613G>T (p.Glu205Ter) rs61749726
NM_004992.3(MECP2):c.616_1122del (p.Gly206_Glu374del) rs1557135847
NM_004992.3(MECP2):c.617del (p.Gly206fs) rs61749727
NM_004992.3(MECP2):c.620dup (p.Gln208fs) 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_652del (p.Gly218fs) rs267608510
NM_004992.3(MECP2):c.654_657del (p.Lys219fs) rs61749734
NM_004992.3(MECP2):c.665_671dup (p.Met224fs) 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.Phe226fs) rs267608514
NM_004992.3(MECP2):c.677_678insA (p.Phe226fs) rs61749736
NM_004992.3(MECP2):c.678del (p.Gln227fs) rs1060499621
NM_004992.3(MECP2):c.686C>A (p.Ser229Ter) rs61749739
NM_004992.3(MECP2):c.689_756del (p.Pro230fs) rs1557136493
NM_004992.3(MECP2):c.695del (p.Gly232fs) rs63260260
NM_004992.3(MECP2):c.695dup (p.Lys233fs) rs63260260
NM_004992.3(MECP2):c.696del (p.Lys233fs) rs61749741
NM_004992.3(MECP2):c.701_1275del (p.Ala234fs) rs1569548274
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.710dup (p.Gly238fs) rs61749743
NM_004992.3(MECP2):c.711_1269del (p.Gly238fs) rs1557135125
NM_004992.3(MECP2):c.720dup (p.Thr241fs) rs267608518
NM_004992.3(MECP2):c.730C>T (p.Gln244Ter) rs61749747
NM_004992.3(MECP2):c.731_1166del (p.Gln244fs) rs1557135670
NM_004992.3(MECP2):c.734_759del (p.Val245fs) rs267608519
NM_004992.3(MECP2):c.736_737insAT (p.Met246fs) rs61749749
NM_004992.3(MECP2):c.736_743delinsGTG (p.Met246fs) rs267608520
NM_004992.3(MECP2):c.739del (p.Met246_Val247insTer) rs61749750
NM_004992.3(MECP2):c.747_751dup (p.Pro251fs) rs1557136523
NM_004992.3(MECP2):c.748_749insT (p.Arg250fs) rs1557136549
NM_004992.3(MECP2):c.748_753delinsGGCCG (p.Arg250fs) rs61750225
NM_004992.3(MECP2):c.748dup (p.Arg250fs) rs61749752
NM_004992.3(MECP2):c.750_774dup (p.Ala259delinsProArgGlnGluAlaLysSerTer) rs1064797104
NM_004992.3(MECP2):c.750delinsTCAGGAAGCTT (p.Pro251fs) rs267608521
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753del (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.755del (p.Gly252fs) rs61750232
NM_004992.3(MECP2):c.755dup (p.Arg253fs) rs61750232
NM_004992.3(MECP2):c.756_759del (p.Arg253fs) rs267608523
NM_004992.3(MECP2):c.756_763dup (p.Arg255fs) rs61750235
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.766A>T (p.Lys256Ter) rs786205027
NM_004992.3(MECP2):c.766_779dup (p.Asp260fs) rs267608524
NM_004992.3(MECP2):c.767_1175del (p.Lys256fs) rs1557135596
NM_004992.3(MECP2):c.76del (p.Leu26fs) rs61754426
NM_004992.3(MECP2):c.784C>T (p.Gln262Ter) rs267608525
NM_004992.3(MECP2):c.785_818del (p.Gln262fs) rs786205028
NM_004992.3(MECP2):c.792_793del (p.Pro265fs) rs267608526
NM_004992.3(MECP2):c.799A>T (p.Lys267Ter) rs61750238
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.808del (p.Arg270fs) rs62931162
NM_004992.3(MECP2):c.810_813del (p.Lys271fs) rs267608529
NM_004992.3(MECP2):c.812_818del (p.Lys271fs) rs61750242
NM_004992.3(MECP2):c.816_832del (p.Gly273fs) rs63749012
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.822_1184del (p.Val275_Ser395del) rs1557135541
NM_004992.3(MECP2):c.822_823TG[1] (p.Val275fs) rs1557136374
NM_004992.3(MECP2):c.830_831ins23 (p.?)
NM_004992.3(MECP2):c.830del (p.Ala277fs) rs61750247
NM_004992.3(MECP2):c.834_939del (p.Ala279fs) rs1557136146
NM_004992.3(MECP2):c.849_1236del (p.Lys284fs) rs1557135197
NM_004992.3(MECP2):c.851_1188del (p.Lys284fs) rs1557135499
NM_004992.3(MECP2):c.852_855AAAG[1] (p.Lys286fs) rs61750256
NM_004992.3(MECP2):c.855_859delinsAAAAAAAAGACT (p.Ala287fs) rs786205030
NM_004992.3(MECP2):c.865A>T (p.Lys289Ter) rs61750259
NM_004992.3(MECP2):c.865_866del (p.Lys289fs) rs267608536
NM_004992.3(MECP2):c.867_1223delinsA (p.Ser291fs) rs1557135218
NM_004992.3(MECP2):c.869_880delinsCACA (p.Glu290fs) rs786205031
NM_004992.3(MECP2):c.869dup (p.Ser291fs) rs267608538
NM_004992.3(MECP2):c.871_1044del (p.Ile293_Ser350del) rs1557136013
NM_004992.3(MECP2):c.874_875insA (p.Ser292fs) rs61751361
NM_004992.3(MECP2):c.880_884del (p.Arg294fs) rs61751364
NM_004992.3(MECP2):c.881_1172del (p.Arg294fs)
NM_004992.3(MECP2):c.881_902del (p.Arg294fs) rs267608540
NM_004992.3(MECP2):c.883del (p.Ser295fs) rs267608541
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) rs61751367
NM_004992.3(MECP2):c.894_1095del (p.Glu298fs) rs1557135907
NM_004992.3(MECP2):c.898_1099del (p.Val300fs) rs1557135893
NM_004992.3(MECP2):c.898_1166del (p.Val300fs) rs1557135666
NM_004992.3(MECP2):c.898_901del (p.Val300fs) rs62701461
NM_004992.3(MECP2):c.898_904del (p.Val300fs) rs267608543
NM_004992.3(MECP2):c.898del (p.Val300fs) rs267608544
NM_004992.3(MECP2):c.905C>G (p.Pro302Arg) rs61749723
NM_004992.3(MECP2):c.906_1138delinsAC (p.Ile303_Val380delinsLeu) rs1557135788
NM_004992.3(MECP2):c.906del (p.Ile303fs) rs267608548
NM_004992.3(MECP2):c.914_1172del (p.Lys305fs) 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.91del (p.Lys30_Val31insTer) rs61754427
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004992.3(MECP2):c.943_1140del198ins6
NM_004992.3(MECP2):c.952dup (p.Glu318fs)
NM_004992.3(MECP2):c.962_1267delinsG (p.Lys321fs) rs1557135128
NM_004992.3(MECP2):c.964C>T (p.Pro322Ser) rs61751449
NM_004992.3(MECP2):c.994_1346del (p.Ser332fs) rs1557135016
NM_004992.3(MECP2):c.994_998del (p.Ser332fs) rs267608558
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

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