ClinVar Miner

List of variants studied for Rett syndrome by RettBASE

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 444
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
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.1199C>T (p.Pro400Leu) rs61753006 0.00005
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1376C>T (p.Ala459Val) rs61753978 0.00001
NM_001110792.2(MECP2):c.62+5380C>T rs267608324 0.00001
NC_000023.11:g.154016489_154067020delinsTTTCCGACAAAGGT
NM_001110792.1(MECP2):c.(?_1)_(62_?)del
NM_001110792.2(MECP2):c.*122del rs267608342
NM_001110792.2(MECP2):c.*92C>G rs62621672
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.100A>T (p.Lys34Ter) rs62641234
NM_001110792.2(MECP2):c.1025_1030delinsGCATCTTCTCCTCTTT (p.Glu342fs) rs61751456
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs) rs267608558
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) rs1557135016
NM_001110792.2(MECP2):c.1045_1063del (p.Lys349fs) rs267608559
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs) rs1557135426
NM_001110792.2(MECP2):c.1048_1238del (p.Thr350fs) rs1557135300
NM_001110792.2(MECP2):c.1051T>C (p.Cys351Arg) rs267608560
NM_001110792.2(MECP2):c.1064_1194del (p.Gly355fs) rs1557135728
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.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075_1231delinsGT (p.Lys359fs) rs1557135400
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1082_1242del (p.Ser361fs) rs1557135268
NM_001110792.2(MECP2):c.1084_1131del (p.Ser362_Glu377del) rs267608562
NM_001110792.2(MECP2):c.1084_1235del (p.Ser362fs) rs1557135350
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) rs1557135338
NM_001110792.2(MECP2):c.1093_1255del (p.Gly365fs) rs1557135225
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.1101C>A (p.Ser367Arg) rs267608563
NM_001110792.2(MECP2):c.1114_*2524del (p.Ser372fs)
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) rs61752372
NM_001110792.2(MECP2):c.1123A>T (p.Lys375Ter) rs61752375
NM_001110792.2(MECP2):c.1129_1131del (p.Glu377del) rs786205032
NM_001110792.2(MECP2):c.112del (p.Leu38fs) rs61754426
NM_001110792.2(MECP2):c.1132_1237del (p.His378fs) rs1557135317
NM_001110792.2(MECP2):c.1133_*13del (p.His378_Ter499delinsXaa) rs1557134819
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) rs1557135285
NM_001110792.2(MECP2):c.1134CCA[2] (p.His384del) rs61752381
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) rs267608567
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) rs1557135213
NM_001110792.2(MECP2):c.1151_1362del (p.His384fs) rs1557135076
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1153_1239del (p.Ser385_Ser413del) rs1557135279
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1159_1227del (p.Ser387_Glu409del) rs1557135441
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) rs1557135299
NM_001110792.2(MECP2):c.1163_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1163_1215del (p.Pro388fs) rs1557135575
NM_001110792.2(MECP2):c.1165_*568delinsCCGTGG (p.Lys389fs) rs1557134378
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1178_1263del (p.Pro393fs) rs1557135212
NM_001110792.2(MECP2):c.1181_1230del (p.Leu394fs) rs267608573
NM_001110792.2(MECP2):c.1186_1228del (p.Pro396fs) rs63749023
NM_001110792.2(MECP2):c.1187_1219del (p.Pro396_Ser407delinsArg) rs267608575
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1187_1227del (p.Pro396fs) rs63749024
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa) rs1557134779
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs) rs267608576
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1189_1224del (p.Pro397_Ser408del) rs786205033
NM_001110792.2(MECP2):c.1189_1226del (p.Pro397fs) rs267608577
NM_001110792.2(MECP2):c.1190_1221del (p.Pro397fs) rs267608578
NM_001110792.2(MECP2):c.1190_1233del (p.Pro397fs) rs267608579
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) rs267608580
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) rs267608584
NM_001110792.2(MECP2):c.1192_1208del (p.Pro397_Leu398insTer) rs267608582
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_*944del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1223del (p.Leu398fs) rs61754419
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1235del (p.Leu398fs) rs267608587
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_1203del (p.Pro399fs) rs63583161
NM_001110792.2(MECP2):c.1194_1222del (p.Pro399fs) rs63749029
NM_001110792.2(MECP2):c.1194_1222delinsCCA (p.Pro399fs) rs386134271
NM_001110792.2(MECP2):c.1194_1234del (p.Pro399fs) rs267608588
NM_001110792.2(MECP2):c.1194_1236del (p.Pro399fs) rs63009262
NM_001110792.2(MECP2):c.1195_1196delinsT (p.Pro399fs) rs267608590
NM_001110792.2(MECP2):c.1195_1237del (p.Pro399fs) rs63749030
NM_001110792.2(MECP2):c.1195_1494del (p.Pro399_Ser498del) rs1557134858
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) rs267608332
NM_001110792.2(MECP2):c.1196_1216del (p.Pro399_Glu406delinsGln) rs267608594
NM_001110792.2(MECP2):c.1196_1221del (p.Pro399fs) rs267608591
NM_001110792.2(MECP2):c.1196_1224del (p.Pro399fs) rs267608593
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1196_1236delinsAGGGGTGG (p.Pro399_Thr412delinsGlnGlyTrp) rs267608343
NM_001110792.2(MECP2):c.1197_1241delinsA (p.Pro400_Pro401insTer) rs267608596
NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del) rs63749034
NM_001110792.2(MECP2):c.1199_*39del (p.Pro400fs) rs1557134770
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) rs267608601
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs) rs267608600
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199_1252del (p.Pro400_Pro417del) rs1557135234
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1220delinsCTGAGCCCCAGGACTTGAGCA (p.Pro401_Ser407delinsTer) rs786205019
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) rs786205020
NM_001110792.2(MECP2):c.1200_1242del (p.Pro401fs) rs267608603
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1200_1244del (p.Pro401_Pro415del) rs267608605
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) rs267608606
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1216_1217insT (p.Glu406fs) rs786205021
NM_001110792.2(MECP2):c.1225G>T (p.Glu409Ter) rs56268439
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) rs267608610
NM_001110792.2(MECP2):c.1230_1231insT (p.Pro411fs) rs61753011
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) rs1557135137
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1236dup (p.Ser413fs) rs267608613
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) rs267608614
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) rs63749038
NM_001110792.2(MECP2):c.1265G>A (p.Ser422Asn) rs267608616
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) rs267608617
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer) rs61754427
NM_001110792.2(MECP2):c.1301_1325delinsAGCGGCCG (p.Gly434fs) rs63749064
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1356dup (p.Ala453fs) rs267608624
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.1400_1401insC (p.Glu467fs) rs267608627
NM_001110792.2(MECP2):c.1439_1444del (p.Arg480_Pro481del) rs267608632
NM_001110792.2(MECP2):c.143_144del (p.Lys48fs) rs267608425
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1444_1447delinsTG (p.Asn482fs) rs786205023
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) rs267608637
NM_001110792.2(MECP2):c.1486_1489del (p.Arg496fs) rs267608638
NM_001110792.2(MECP2):c.1488_1489dup (p.Val497fs) rs267608638
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.1491_1492dup (p.Ser498fs) rs267608641
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.153dup (p.Glu52fs) rs267608427
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.162dup (p.His55fs) rs61754430
NM_001110792.2(MECP2):c.176dup (p.Pro60fs) rs61754431
NM_001110792.2(MECP2):c.182C>A (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.23_27dup (p.Ser10fs) rs786205038
NM_001110792.2(MECP2):c.251_252insT (p.Ala85fs) rs1557137871
NM_001110792.2(MECP2):c.251dup (p.Ala85fs) rs61754441
NM_001110792.2(MECP2):c.269del (p.Ser90fs) rs267608442
NM_001110792.2(MECP2):c.279dup (p.Lys94fs) rs267608443
NM_001110792.2(MECP2):c.293C>G (p.Ser98Cys) rs61754445
NM_001110792.2(MECP2):c.294_295del (p.Ile99fs) rs267608444
NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs) rs786205040
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) rs267608445
NM_001110792.2(MECP2):c.311dup (p.Pro105fs) rs267608446
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.331_333del (p.Thr111del) rs267608449
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>A (p.Pro113His) rs61754453
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.338C>T (p.Pro113Leu) rs61754453
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
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.347G>A (p.Trp116Ter) rs61754455
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs) rs63749010
NM_001110792.2(MECP2):c.351dup (p.Arg118fs) rs61754456
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.353G>A (p.Arg118Gln) rs61754457
NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu) rs61754457
NM_001110792.2(MECP2):c.354_357dup (p.Leu120fs) rs786205025
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.362dup (p.Gln122fs) rs267608452
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.381del (p.Ser128fs) rs61755761
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.408G>C (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.411del (p.Asn138fs) rs267608457
NM_001110792.2(MECP2):c.413+1G>A rs267608463
NM_001110792.2(MECP2):c.413+1G>T rs267608463
NM_001110792.2(MECP2):c.413+2T>G rs267608458
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-2A>C rs267608464
NM_001110792.2(MECP2):c.414-2A>G rs267608464
NM_001110792.2(MECP2):c.414-2A>T rs267608464
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414_1497del (p.Pro139fs)
NM_001110792.2(MECP2):c.416C>T (p.Pro139Leu) rs267608387
NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) rs267608469
NM_001110792.2(MECP2):c.418_1225del (p.Gln140fs)
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.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) 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>G (p.Ser146Cys) rs61748390
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.445_1194del (p.Glu149_Leu398del)
NM_001110792.2(MECP2):c.447del (p.Glu149fs) rs61748393
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) rs267608475
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) rs267608475
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) rs267608476
NM_001110792.2(MECP2):c.458A>G (p.Tyr153Cys) rs61748395
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) rs61748398
NM_001110792.2(MECP2):c.466A>T (p.Lys156Ter) rs61748399
NM_001110792.2(MECP2):c.467del (p.Lys156fs) rs61748400
NM_001110792.2(MECP2):c.475del (p.Asp159fs) rs62952161
NM_001110792.2(MECP2):c.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.487del (p.Asp163fs) rs61748402
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
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.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.500T>C (p.Phe167Ser) rs28934905
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.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.506_507del (p.Phe169fs) rs267608483
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) rs267608482
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.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) rs267608485
NM_001110792.2(MECP2):c.516_517del (p.Gly173fs) rs267608486
NM_001110792.2(MECP2):c.516del (p.Arg174fs) rs61748415
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.519del (p.Arg174fs) rs61748418
NM_001110792.2(MECP2):c.520dup (p.Arg174fs) rs267608487
NM_001110792.2(MECP2):c.524_1225del (p.Gly175_Ser408del) rs1557135461
NM_001110792.2(MECP2):c.524_525del (p.Gly175fs) rs267608488
NM_001110792.2(MECP2):c.538C>A (p.Arg180=) rs61748421
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.567del (p.Lys189fs) rs61749703
NM_001110792.2(MECP2):c.574A>T (p.Lys192Ter) rs267608495
NM_001110792.2(MECP2):c.579_580del (p.Pro194fs) rs267608496
NM_001110792.2(MECP2):c.590del (p.Gly197fs) rs61749707
NM_001110792.2(MECP2):c.59_60del (p.Arg20fs) rs786205047
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.602del (p.Gly201fs) rs61749708
NM_001110792.2(MECP2):c.602dup (p.Arg202fs) rs61749708
NM_001110792.2(MECP2):c.603dup (p.Arg202fs) rs61749709
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter) rs193922679
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.628A>T (p.Arg210Ter) rs61749717
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-3928_1220del
NM_001110792.2(MECP2):c.63-6214_1227del
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-94_1243del
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.634A>T (p.Lys212Ter) rs61749718
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) rs267608503
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) rs267608506
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.647_648delinsAG (p.Ser216Ter) rs267608507
NM_001110792.2(MECP2):c.649G>T (p.Glu217Ter) rs61749726
NM_001110792.2(MECP2):c.64G>C (p.Glu22Gln) rs61754421
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter) rs61754421
NM_001110792.2(MECP2):c.652_1158del (p.Gly218_Glu386del) rs1557135847
NM_001110792.2(MECP2):c.653del (p.Gly218fs) rs61749727
NM_001110792.2(MECP2):c.656dup (p.Gln220fs) rs61749728
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) rs61749729
NM_001110792.2(MECP2):c.665A>T (p.Lys222Ile) rs61749730
NM_001110792.2(MECP2):c.671_691del (p.Val224_Lys231delinsGlu) rs267608509
NM_001110792.2(MECP2):c.687_688del (p.Gly230fs) rs267608510
NM_001110792.2(MECP2):c.690_693del (p.Lys231fs) rs61749734
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.712_713insA (p.Phe238fs) rs267608514
NM_001110792.2(MECP2):c.713_714insA (p.Phe238fs) rs61749736
NM_001110792.2(MECP2):c.71_78dup (p.Asp27fs) rs63749008
NM_001110792.2(MECP2):c.731del (p.Gly244fs) rs63260260
NM_001110792.2(MECP2):c.731dup (p.Lys245fs) rs63260260
NM_001110792.2(MECP2):c.732del (p.Lys245fs) rs61749741
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) rs1557135125
NM_001110792.2(MECP2):c.756dup (p.Thr253fs) rs267608518
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) rs1557135670
NM_001110792.2(MECP2):c.770_795del (p.Val257fs) rs267608519
NM_001110792.2(MECP2):c.772_773insAT (p.Met258fs) rs61749749
NM_001110792.2(MECP2):c.775del (p.Met258_Val259insTer) rs61749750
NM_001110792.2(MECP2):c.783_787dup (p.Pro263fs) rs1557136523
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) rs1557136549
NM_001110792.2(MECP2):c.784_789delinsGGCCG (p.Arg262fs) rs61750225
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) rs61749752
NM_001110792.2(MECP2):c.786delinsTCAGGAAGCTT (p.Pro263fs) rs267608521
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.791del (p.Gly264fs) rs61750232
NM_001110792.2(MECP2):c.791dup (p.Arg265fs) rs61750232
NM_001110792.2(MECP2):c.792_795del (p.Arg265fs) rs267608523
NM_001110792.2(MECP2):c.792_799dup (p.Arg267fs) rs61750235
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.802A>T (p.Lys268Ter) rs786205027
NM_001110792.2(MECP2):c.802_815dup (p.Asp272fs) rs267608524
NM_001110792.2(MECP2):c.803_1211del (p.Lys268fs) rs1557135596
NM_001110792.2(MECP2):c.820C>T (p.Gln274Ter) rs267608525
NM_001110792.2(MECP2):c.821_854del (p.Gln274fs) rs786205028
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) rs267608526
NM_001110792.2(MECP2):c.835A>T (p.Lys279Ter) rs61750238
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.846_849del (p.Lys283fs) rs267608529
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) rs61750242
NM_001110792.2(MECP2):c.852_868del (p.Gly285fs) rs63749012
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) rs1557135541
NM_001110792.2(MECP2):c.866del (p.Ala289fs) rs61750247
NM_001110792.2(MECP2):c.86dup (p.Asp29fs) rs267608416
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs) rs1557135197
NM_001110792.2(MECP2):c.887_1224del (p.Lys296fs) rs1557135499
NM_001110792.2(MECP2):c.891_895delinsAAAAAAAAGACT (p.Ala299fs) rs786205030
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter) rs61750259
NM_001110792.2(MECP2):c.901_902del (p.Lys301fs) rs267608536
NM_001110792.2(MECP2):c.903_1259delinsA (p.Ser303fs) rs1557135218
NM_001110792.2(MECP2):c.905_916delinsCACA (p.Glu302fs) rs786205031
NM_001110792.2(MECP2):c.905dup (p.Ser303fs) rs267608538
NM_001110792.2(MECP2):c.907T>G (p.Ser303Ala) rs61751360
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.910_911insA (p.Ser304fs) rs61751361
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) rs61751364
NM_001110792.2(MECP2):c.917_938del (p.Arg306fs) rs267608540
NM_001110792.2(MECP2):c.919del (p.Ser307fs) rs267608541
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter) rs61754425
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) rs1557135907
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.934_1135del (p.Val312fs) rs1557135893
NM_001110792.2(MECP2):c.934_937del (p.Val312fs) rs62701461
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) rs267608543
NM_001110792.2(MECP2):c.934del (p.Val312fs) rs267608544
NM_001110792.2(MECP2):c.936_944del (p.Leu313_Ile315del) rs267608545
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>G (p.Pro314Arg) rs61749723
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.2(MECP2):c.942del (p.Ile315fs) rs267608548
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
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.950_1208del (p.Lys317fs) rs1557135622
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.953G>A (p.Arg318His) rs61751443
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.998_1303delinsG (p.Lys333fs) rs1557135128
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_004992.3(MECP2):c.(?_-1)_(26_?)del
NM_004992.3(MECP2):c.(?_-226)_(*1_?)del
NM_004992.3(MECP2):c.(?_-226)_-99+?del
NM_004992.3(MECP2):c.(?_-226)_26+?del
NM_004992.3(MECP2):c.(?_1)_26+?dup
NM_004992.3(MECP2):c.(?_1017)_(1397_?)del
NM_004992.3(MECP2):c.(?_1044)_(1442_?)del
NM_004992.3(MECP2):c.(?_1169)_(1170_?)del (p.(?))
NM_004992.3(MECP2):c.(?_1169)_(1397_?)del
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
NM_004992.3(MECP2):c.(?_27)_(367_?)del
NM_004992.3(MECP2):c.(?_378)_(1170_?)del
NM_004992.3(MECP2):c.(?_378)_(1185_?)del
NM_004992.3(MECP2):c.(?_378)_(1337_?)del
NM_004992.3(MECP2):c.(?_378)_*(1_?)del
NM_004992.3(MECP2):c.(?_631)_(657_?)del (p.(?))
NM_004992.3(MECP2):c.(?_631)_(657_?)dup (p.(?))
NM_004992.3(MECP2):c.-98-?_377+?del
NM_004992.3(MECP2):c.1-?dup
NM_004992.3(MECP2):c.1101_(1396_?)del
NM_004992.3(MECP2):c.1159_1160ins300 (p.?)
NM_004992.3(MECP2):c.1165_1233del69ins21 (p.?)
NM_004992.3(MECP2):c.27-12521_*5072del
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.481_987del507ins8
NM_004992.3(MECP2):c.820_1153del334ins67 (p.?)
NM_004992.3(MECP2):c.830_831ins23 (p.?)
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_004992.4(MECP2):c.26+2T>A rs267608409
nsv1197494

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