ClinVar Miner

List of variants in gene MECP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 563
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.413+266T>C rs2075596 0.84600
NM_001110792.2(MECP2):c.414-109A>G rs3850326 0.04029
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_001110792.2(MECP2):c.414-74C>T rs2071569 0.01484
NM_001110792.2(MECP2):c.62+5140A>G rs191208644 0.01268
NM_001110792.2(MECP2):c.413+242C>T rs138803341 0.00779
NM_001110792.2(MECP2):c.413+22C>G rs2075597 0.00778
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.413+28A>G rs185036026 0.00301
NM_001110792.2(MECP2):c.719C>G (p.Thr240Ser) rs61749738 0.00291
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001110792.2(MECP2):c.413+95G>A rs267608460 0.00223
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001110792.2(MECP2):c.1071A>G (p.Lys357=) rs61752362 0.00157
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_001110792.2(MECP2):c.1233C>T (p.Pro411=) rs61753012 0.00081
NM_001110792.2(MECP2):c.*9G>A rs144008995 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001110792.2(MECP2):c.*371G>C rs187851059 0.00062
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110792.2(MECP2):c.414-61C>G rs191076920 0.00056
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001110792.2(MECP2):c.879C>T (p.Ala293=) rs61750252 0.00050
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001110792.2(MECP2):c.885C>G (p.Ala295=) rs61750253 0.00042
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001110792.2(MECP2):c.*5348T>C rs267608346 0.00025
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 0.00019
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) rs782243032 0.00015
NM_001110792.2(MECP2):c.1362C>T (p.Thr454=) rs61751363 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) rs139477857 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs) rs267608339 0.00010
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala) rs61748422 0.00010
NM_001110792.2(MECP2):c.*806G>A rs267608363 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001110792.2(MECP2):c.642C>T (p.Ala214=) rs782254448 0.00008
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1107C>T (p.Ser369=) rs61750236 0.00006
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) rs782050077 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00005
NM_001110792.2(MECP2):c.1232C>T (p.Pro411Leu) rs62915962 0.00005
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) rs146632223 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.1485G>C (p.Glu495Asp) rs267608336 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) rs587783107 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001110792.2(MECP2):c.*1C>G rs781782964 0.00003
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=) rs782741920 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) rs587783134 0.00003
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala) rs868943420 0.00003
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala) rs782208190 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) rs782202329 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1239C>T (p.Ser413=) rs782230851 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001110792.2(MECP2):c.189C>T (p.His63=) rs267608432 0.00002
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 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.587C>G (p.Thr196Ser) rs782419414 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) rs61749722 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) rs782744332 0.00002
NM_001110792.2(MECP2):c.*4T>C rs782579028 0.00001
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) rs1557136001 0.00001
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) rs782242577 0.00001
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) rs782228941 0.00001
NM_001110792.2(MECP2):c.1137C>T (p.His379=) rs1336019373 0.00001
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) rs782221170 0.00001
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) rs971722789 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr) rs1171658384 0.00001
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile) rs782420809 0.00001
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) rs150146088 0.00001
NM_001110792.2(MECP2):c.1248G>A (p.Glu416=) rs782585521 0.00001
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) rs782598922 0.00001
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) rs61753967 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) rs76895094 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.413+24C>A rs267608462 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 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.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu) rs782716294 0.00001
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) rs782735472 0.00001
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567 0.00001
NM_001110792.2(MECP2):c.753C>T (p.Ala251=) rs1057520963 0.00001
NM_001110792.2(MECP2):c.759A>G (p.Thr253=) rs1416619132 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001110792.2(MECP2):c.840G>A (p.Arg280=) rs2065942686 0.00001
NM_001110792.2(MECP2):c.844C>G (p.Arg282Gly) rs61750240 0.00001
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) rs782743949 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln) rs61751366 0.00001
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr) rs1327387670 0.00001
GRCh37/hg19 Xq28(chrX:153292180-153296464)x2
GRCh37/hg19 Xq28(chrX:153295624-153296445)x2
GRCh37/hg19 Xq28(chrX:153296295-153296464)x2
GRCh37/hg19 Xq28(chrX:153303159-153383470)x3
GRCh37/hg19 Xq28(chrX:153347338-153408903)x2
NM_001110792.2(MECP2):c.*1109T>C
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.*772G>A
NM_001110792.2(MECP2):c.*796_*822del rs267608375
NM_001110792.2(MECP2):c.*9G>T rs144008995
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.1001_1006del (p.Pro334_Leu335del) rs61751452
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=) rs374670136
NM_001110792.2(MECP2):c.1016C>T (p.Thr339Ile)
NM_001110792.2(MECP2):c.1025AGA[1] (p.Lys343del) rs61751456
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg)
NM_001110792.2(MECP2):c.1037_1219del (p.Lys346_Glu406del) rs1557135547
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) rs267608376
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1043_1133delinsCTGTAAGTGCAC (p.Leu348fs) rs1557135901
NM_001110792.2(MECP2):c.1050C>T (p.Thr350=) rs267608400
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
NM_001110792.2(MECP2):c.1065del (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1065dup (p.Arg356fs) rs61751457
NM_001110792.2(MECP2):c.1077_*29del (p.Lys359_Ter499delinsXaa) rs1557134784
NM_001110792.2(MECP2):c.1079_1092del (p.Glu360fs) rs267608380
NM_001110792.2(MECP2):c.1080_1125del (p.Ser361fs) rs2065928811
NM_001110792.2(MECP2):c.1081_1131del (p.Ser361_Glu377del)
NM_001110792.2(MECP2):c.1085G>A (p.Ser362Asn) rs1557136008
NM_001110792.2(MECP2):c.1087_1090del (p.Pro363fs) rs267608377
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) rs2148661393
NM_001110792.2(MECP2):c.1092_1165del (p.Arg366fs)
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) rs267608378
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) rs267608381
NM_001110792.2(MECP2):c.109C>T (p.Pro37Ser) rs1275570991
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.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs) rs1557135516
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del) rs1305887312
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) rs1057520135
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) rs267608385
NM_001110792.2(MECP2):c.1132C>T (p.His378Tyr) rs2065928374
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
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.1134_1237del (p.His378fs)
NM_001110792.2(MECP2):c.1140C>T (p.His380=) rs61752382
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1141del (p.His381fs) rs267608568
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs) rs2148659692
NM_001110792.2(MECP2):c.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter) rs267608569
NM_001110792.2(MECP2):c.1155dup (p.Glu386fs) rs1557135851
NM_001110792.2(MECP2):c.1161_1173del (p.Pro388fs) rs267608340
NM_001110792.2(MECP2):c.1164_1215del (p.Lys389fs) rs1557135571
NM_001110792.2(MECP2):c.1165_1169delinsGAGT (p.Lys389fs) rs267608379
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs) rs1557135423
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs) rs1557135353
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1168_1169insT (p.Ala390fs) rs2065925648
NM_001110792.2(MECP2):c.1168_1195del (p.Ala390fs) rs267608348
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1171_1199del (p.Pro391fs)
NM_001110792.2(MECP2):c.1172_1178del (p.Pro391fs) rs267608389
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
NM_001110792.2(MECP2):c.1174_1191del (p.Val392_Pro397del)
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1176dup (p.Pro393fs) rs2065924675
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) rs587783094
NM_001110792.2(MECP2):c.1184_1213del (p.Leu395_Glu404del) rs267608350
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) rs1557135631
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1191_1208del (p.Leu398_Pro403del) rs267608392
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1193_1205del (p.Leu398fs) rs1603307876
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs) rs267608585
NM_001110792.2(MECP2):c.1193_1227del (p.Leu398fs) rs267608586
NM_001110792.2(MECP2):c.1193_1230del (p.Leu398fs) rs2148659886
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1195_1210del (p.Pro399fs) rs267608373
NM_001110792.2(MECP2):c.1195_1246del (p.Pro399fs) rs1557135251
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr) rs1557135722
NM_001110792.2(MECP2):c.1196_1202del (p.Pro399fs) rs267608332
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1197_1302del (p.Pro400fs) rs1557135140
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1198CCACCT[1] (p.Pro402_Pro403del) rs61753008
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) rs267608597
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1199_1203delinsTC (p.Pro400_Pro401delinsLeu)
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) rs267608334
NM_001110792.2(MECP2):c.1199_1215del (p.Pro400fs) rs267608601
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1200_1224del (p.Pro401fs) rs2148660011
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1202dup (p.Pro402fs) rs797044733
NM_001110792.2(MECP2):c.1203_1212del (p.Pro403fs) rs267608349
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) rs267608369
NM_001110792.2(MECP2):c.1209_1236del (p.Glu404fs) rs2065913161
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp) rs61753009
NM_001110792.2(MECP2):c.1212_1229del (p.Glu404_Glu409del) rs267608335
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) rs267608383
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=) rs781898011
NM_001110792.2(MECP2):c.1216_1241del (p.Glu406fs) rs267608333
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1217_1227del (p.Glu406fs) rs267608403
NM_001110792.2(MECP2):c.1218G>C (p.Glu406Asp)
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) rs1603307813
NM_001110792.2(MECP2):c.1221_1227del (p.Ser407fs) rs63749018
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) rs267608338
NM_001110792.2(MECP2):c.1225_1267inv (p.Glu409_Ser423delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_001110792.2(MECP2):c.1233_1273inv (p.Thr412_Cys425delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg) rs61753014
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) rs782495086
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) rs587783107
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) rs781843758
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1245del (p.Glu416fs) rs1064796837
NM_001110792.2(MECP2):c.1250_1263del (p.Pro417fs) rs1557135208
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) rs267608615
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) rs2065909462
NM_001110792.2(MECP2):c.1262G>A (p.Ser421Asn) rs1603307567
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) rs267608351
NM_001110792.2(MECP2):c.1268_1276del (p.Ser423_Cys425del) rs63749027
NM_001110792.2(MECP2):c.126G>A (p.Lys42=) rs398124187
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) rs782598922
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) rs267608374
NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter) rs1057519216
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp) rs1603307532
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) rs1210814372
NM_001110792.2(MECP2):c.1304_1317del (p.Ser435fs) rs2065907079
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs) rs1557134923
NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn) rs2148659072
NM_001110792.2(MECP2):c.1315G>T (p.Asp439Tyr)
NM_001110792.2(MECP2):c.1326dup (p.Lys443fs) rs587783095
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly) rs2148658933
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1354dup (p.Val452fs) rs1603307453
NM_001110792.2(MECP2):c.1360_1400del (p.Thr454fs) rs267608625
NM_001110792.2(MECP2):c.1362_1370del (p.454TAA[1]) rs267608404
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs) rs63749065
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala) rs2065904640
NM_001110792.2(MECP2):c.1374_1379del (p.Ala459_Glu460del) rs786205022
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg)
NM_001110792.2(MECP2):c.138del (p.Asp46fs) rs1557137983
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter) rs61753979
NM_001110792.2(MECP2):c.1397G>C (p.Gly466Ala) rs1557134990
NM_001110792.2(MECP2):c.1399G>T (p.Glu467Ter) rs104894864
NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg) rs1557134964
NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile) rs1270065515
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1450GAG[3] (p.Glu485_Pro486insGlu)
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.1451_1452dup (p.Glu485fs)
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter) rs587777421
NM_001110792.2(MECP2):c.1484_*29del (p.Glu495fs) rs267608393
NM_001110792.2(MECP2):c.1486_*24del (p.Arg496_Ter499del) rs1557134792
NM_001110792.2(MECP2):c.1490_*12del (p.Val497fs) rs2065899494
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg) rs267608337
NM_001110792.2(MECP2):c.1496G>T (p.Ter499Leu) rs267608399
NM_001110792.2(MECP2):c.157_160del (p.Gly53fs) rs1603310863
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter) rs61754432
NM_001110792.2(MECP2):c.191A>G (p.His64Arg) rs61754433
NM_001110792.2(MECP2):c.192C>G (p.His64Gln) rs781819534
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.245_246insA (p.Ala83fs) rs2065987178
NM_001110792.2(MECP2):c.248C>T (p.Ala83Val)
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs) rs63749009
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser) rs1557137845
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys) rs1332969540
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln) rs797044707
NM_001110792.2(MECP2):c.311del (p.Gly104fs) rs267608446
NM_001110792.2(MECP2):c.312_313insG (p.Pro105fs) rs267608405
NM_001110792.2(MECP2):c.319_322del (p.Tyr107fs) rs1557137776
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.337C>A (p.Pro113Thr) rs61754452
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) rs587783744
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.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.361A>G (p.Lys121Glu) rs886041732
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys) rs1057518718
NM_001110792.2(MECP2):c.370A>T (p.Lys124Ter) rs267608398
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
NM_001110792.2(MECP2):c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp) rs2148666395
NM_001110792.2(MECP2):c.389G>C (p.Gly130Ala) rs1557137672
NM_001110792.2(MECP2):c.395A>G (p.Tyr132Cys)
NM_001110792.2(MECP2):c.399T>G (p.Asp133Glu) rs2065982277
NM_001110792.2(MECP2):c.400G>A (p.Val134Met) rs267608455
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp) rs1064796513
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.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.414-10G>T rs1557137196
NM_001110792.2(MECP2):c.414-11T>A
NM_001110792.2(MECP2):c.414-14G>A rs267608467
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.414-241C>T rs3027931
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.414-3_419del rs267608466
NM_001110792.2(MECP2):c.414-4del rs1557137191
NM_001110792.2(MECP2):c.414-74C>G rs2071569
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.422G>A (p.Gly141Glu) rs61748384
NM_001110792.2(MECP2):c.423A>G (p.Gly141=) rs1557137159
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) 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.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.440A>C (p.Lys147Thr)
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
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.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.458dup (p.Tyr153Ter) rs61748394
NM_001110792.2(MECP2):c.459C>A (p.Tyr153Ter)
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter) rs61748396
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu) rs61748397
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) rs1569549906
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val)
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.488A>T (p.Asp163Val)
NM_001110792.2(MECP2):c.48C>T (p.Gly16=) rs786205045
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.504C>T (p.Asp168=) rs61748408
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
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.516_517del (p.Gly173fs) rs267608486
NM_001110792.2(MECP2):c.523G>T (p.Gly175Trp) rs1557136974
NM_001110792.2(MECP2):c.52_59del (p.Glu18fs) rs2066904707
NM_001110792.2(MECP2):c.531del (p.Ser178fs) rs267608489
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.539G>C (p.Arg180Pro)
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.557A>C (p.Lys186Thr) rs782700352
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter) rs61748428
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser) rs186663314
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.565A>T (p.Lys189Ter) rs61749702
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.572C>T (p.Pro191Leu)
NM_001110792.2(MECP2):c.577G>T (p.Ala193Ser) rs2148663753
NM_001110792.2(MECP2):c.578C>G (p.Ala193Gly)
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) rs587783133
NM_001110792.2(MECP2):c.589G>A (p.Gly197Ser) rs587783135
NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter) rs587783136
NM_001110792.2(MECP2):c.599G>A (p.Arg200Gln)
NM_001110792.2(MECP2):c.616_1227del (p.Ser206_Glu409del) rs2148659968
NM_001110792.2(MECP2):c.62+1G>C rs786205048
NM_001110792.2(MECP2):c.62+2T>A rs1557150841
NM_001110792.2(MECP2):c.62+2T>G rs1557150841
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.62+304dup rs11368467
NM_001110792.2(MECP2):c.62+5488dup rs372915987
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-3C>G
NM_001110792.2(MECP2):c.63-55G>A rs267608414
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.63-8C>G rs267608410
NM_001110792.2(MECP2):c.63-9A>G rs267608413
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr) rs2148663508
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter) rs61749724
NM_001110792.2(MECP2):c.653G>A (p.Gly218Asp) rs63485860
NM_001110792.2(MECP2):c.658C>T (p.Gln220Ter) rs61749729
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln) rs377324117
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) rs786205894
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala)
NM_001110792.2(MECP2):c.731del (p.Gly244fs) rs63260260
NM_001110792.2(MECP2):c.732C>T (p.Gly244=) rs2065947928
NM_001110792.2(MECP2):c.741G>A (p.Glu247=) rs2148663015
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.747T>G (p.Gly249=)
NM_001110792.2(MECP2):c.751del (p.Ala251fs) rs61749744
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.76G>A (p.Glu26Lys) rs2065991940
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.784dup (p.Arg262fs) rs61749752
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
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.796A>T (p.Lys266Ter) rs63259763
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
NM_001110792.2(MECP2):c.801_1194del (p.Lys268fs) rs1557135734
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
NM_001110792.2(MECP2):c.814_829del (p.Asp272fs)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.818C>T (p.Pro273Leu)
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter) rs61754424
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa) rs1557134716
NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs) rs587783091
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.849_850del (p.Lys283fs)
NM_001110792.2(MECP2):c.851del (p.Pro284fs) rs1057518568
NM_001110792.2(MECP2):c.855del (p.Ser286fs) rs267608530
NM_001110792.2(MECP2):c.866C>T (p.Ala289Val) rs1569548411
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) rs781971438
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.884C>A (p.Ala295Asp) rs1186486711
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001110792.2(MECP2):c.890dup (p.Lys298fs) rs267608531
NM_001110792.2(MECP2):c.900dup (p.Lys301fs) rs267608535
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile)
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe) rs1557136251
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.943A>G (p.Ile315Val) rs1057522038
NM_001110792.2(MECP2):c.946A>C (p.Lys316Gln) rs61751440
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
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.953G>T (p.Arg318Leu) rs61751443
NM_001110792.2(MECP2):c.955A>G (p.Lys319Glu) rs1131691480
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser) rs1557136171
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) rs61751448
NM_004992.3(MECP2):c.1009_1294del286ins41 (p.?)
NM_004992.3(MECP2):c.1276_*113del299ins3
NM_004992.3(MECP2):c.249_250ins7
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
NM_004992.3(MECP2):c.764_765ins8
NM_004992.3(MECP2):c.943_1140del198ins6
NM_004992.3(MECP2):c.[1155_1200del;987_988del]
NM_004992.4(MECP2):c.20G>A (p.Gly7Glu) rs1057517905
NM_004992.4(MECP2):c.26+2T>A rs267608409

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