ClinVar Miner

List of variants in gene MECP2 studied for Severe neonatal-onset encephalopathy with microcephaly

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Total variants: 162
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HGVS dbSNP
MECP2, 1-BP DEL, 806G
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NM_001110792.1(MECP2):c.45_47dupAGG (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr)
NM_001110792.2(MECP2):c.23del (p.Ala8fs)
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
NM_001110792.2(MECP2):c.6_8CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[4] (p.Ala7_Ala8del) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6_8CGC[8] (p.Ala7_Ala8dup) rs398123566
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.-99+1G>A rs786205048
NM_004992.3(MECP2):c.1019dup (p.Ser341fs) rs1557136059
NM_004992.3(MECP2):c.1025C>G (p.Pro342Arg) rs1569548372
NM_004992.3(MECP2):c.1028_1210del (p.Gly343_Pro403del)
NM_004992.3(MECP2):c.1035A>G (p.Lys345=) rs61752362
NM_004992.3(MECP2):c.1051_1065del (p.Pro351_Ser355del) rs267608384
NM_004992.3(MECP2):c.1071C>T (p.Ser357=) rs61750236
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) rs61752371
NM_004992.3(MECP2):c.1081C>A (p.Pro361Thr)
NM_004992.3(MECP2):c.1081C>T (p.Pro361Ser)
NM_004992.3(MECP2):c.1084C>G (p.Pro362Ala) rs782171742
NM_004992.3(MECP2):c.1102C>G (p.His368Asp) rs781968415
NM_004992.3(MECP2):c.1107T>C (p.His369=) rs1557135877
NM_004992.3(MECP2):c.1115_1321del (p.His372_Ala441delinsPro) rs1557135080
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1133C>T (p.Ala378Val) rs201314910
NM_004992.3(MECP2):c.1137del (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1137dup (p.Val380fs) rs1557135793
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1140G>A (p.Val380=) rs201711454
NM_004992.3(MECP2):c.1143_1160del (p.Leu382_Pro387del)
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1154_1190delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro385_Glu397delinsGlnGlnAsnSerProProTer) rs1569548307
NM_004992.3(MECP2):c.1155_1172del (p.Leu386_Pro391del) rs267608392
NM_004992.3(MECP2):c.1156_1188del (p.Leu386_Ser396del) rs1569548314
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1157_1200del (p.Leu386fs) rs63749748
NM_004992.3(MECP2):c.1158_*3444del (p.Pro387fs)
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1162C>G (p.Pro388Ala) rs61753000
NM_004992.3(MECP2):c.1162_1179del (p.Pro388_Pro393del) rs267608406
NM_004992.3(MECP2):c.1163C>T (p.Pro388Leu) rs61753006
NM_004992.3(MECP2):c.1163_1201del (p.Pro388_Ser401delinsArg) rs267608602
NM_004992.3(MECP2):c.1164_1184del (p.Pro389_Ser395del) rs1557135539
NM_004992.3(MECP2):c.1164_1207del (p.Pro388_Pro389insTer) rs61752992
NM_004992.3(MECP2):c.1175A>C (p.Glu392Ala) rs1557135593
NM_004992.3(MECP2):c.117_118AG[1] (p.Glu40fs) rs267608428
NM_004992.3(MECP2):c.1180_1197del (p.Glu394_Pro399del) rs1557135368
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1204C>A (p.Pro402Thr) rs150146088
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.1215C>T (p.Pro405=) rs61753964
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1250A>T (p.Lys417Met) rs61753968
NM_004992.3(MECP2):c.1266C>T (p.Gly422=) rs61753970
NM_004992.3(MECP2):c.1279G>A (p.Asp427Asn)
NM_004992.3(MECP2):c.1282G>A (p.Gly428Ser) rs61753971
NM_004992.3(MECP2):c.1289C>T (p.Pro430Leu) rs930563451
NM_004992.3(MECP2):c.1308_1309del (p.Gln437fs) rs61753972
NM_004992.3(MECP2):c.1314_1315CG[1] (p.Ala439fs) rs1557135091
NM_004992.3(MECP2):c.1315G>A (p.Ala439Thr) rs61753973
NM_004992.3(MECP2):c.1326C>T (p.Thr442=) rs61751363
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1328C>T (p.Ala443Val) rs375101073
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1335G>A (p.Thr445=) rs3027927
NM_004992.3(MECP2):c.1339G>A (p.Ala447Thr) rs267608626
NM_004992.3(MECP2):c.1348dup (p.Tyr450fs) rs1557135004
NM_004992.3(MECP2):c.1350C>G (p.Tyr450Ter) rs1557134999
NM_004992.3(MECP2):c.1373G>A (p.Arg458His) rs185957513
NM_004992.3(MECP2):c.1447G>A (p.Glu483Lys) rs587777421
NM_004992.3(MECP2):c.168C>T (p.Pro56=) rs61754435
NM_004992.3(MECP2):c.210C>T (p.Ser70=) rs61754439
NM_004992.3(MECP2):c.225G>A (p.Pro75=) rs61754442
NM_004992.3(MECP2):c.244A>T (p.Lys82Ter)
NM_004992.3(MECP2):c.250C>T (p.Arg84Trp) rs1557137821
NM_004992.3(MECP2):c.27-5778_1138del
NM_004992.3(MECP2):c.27-8916_1212del
NM_004992.3(MECP2):c.276A>G (p.Gly92=) rs140191561
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.377A>G (p.Asn126Ser) rs786205037
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.380C>T (p.Pro127Leu) rs267608387
NM_004992.3(MECP2):c.382C>T (p.Gln128Ter) rs267608469
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.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.426C>T (p.Phe142=) rs61748397
NM_004992.3(MECP2):c.438C>T (p.Gly146=) rs61748386
NM_004992.3(MECP2):c.452A>G (p.Asp151Gly) rs61748403
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.468C>G (p.Asp156Glu) rs61748408
NM_004992.3(MECP2):c.469T>A (p.Phe157Ile) rs61748410
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.488_489del (p.Gly163fs) rs267608488
NM_004992.3(MECP2):c.495C>T (p.Pro165=) rs376821032
NM_004992.3(MECP2):c.499C>T (p.Arg167Trp) rs61748420
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.518C>G (p.Pro173Arg) rs267608492
NM_004992.3(MECP2):c.527C>T (p.Pro176Leu) rs61749701
NM_004992.3(MECP2):c.543T>C (p.Ala181=) rs1557136875
NM_004992.3(MECP2):c.562C>T (p.Arg188Trp)
NM_004992.3(MECP2):c.568C>T (p.Arg190Cys) rs587783137
NM_004992.3(MECP2):c.582C>T (p.Ser194=) rs61749711
NM_004992.3(MECP2):c.585C>T (p.Gly195=) rs61749712
NM_004992.3(MECP2):c.587C>G (p.Thr196Ser) rs61749713
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.591G>A (p.Thr197=) rs61749716
NM_004992.3(MECP2):c.591G>C (p.Thr197=) rs61749716
NM_004992.3(MECP2):c.596C>G (p.Pro199Arg) rs267608502
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.603G>A (p.Ala201=) rs267608504
NM_004992.3(MECP2):c.609G>A (p.Thr203=) rs61749722
NM_004992.3(MECP2):c.617G>C (p.Gly206Ala) rs63485860
NM_004992.3(MECP2):c.623A>G (p.Gln208Arg)
NM_004992.3(MECP2):c.633G>C (p.Arg211Ser) rs61749731
NM_004992.3(MECP2):c.634G>T (p.Val212Phe) rs1569548445
NM_004992.3(MECP2):c.666C>G (p.Val222=) rs61749735
NM_004992.3(MECP2):c.674C>G (p.Pro225Arg) rs61749715
NM_004992.3(MECP2):c.683C>G (p.Thr228Ser) rs61749738
NM_004992.3(MECP2):c.686C>T (p.Ser229Leu) rs61749739
NM_004992.3(MECP2):c.695G>C (p.Gly232Ala) rs61748422
NM_004992.3(MECP2):c.701C>T (p.Ala234Val) rs138211345
NM_004992.3(MECP2):c.71A>G (p.Lys24Arg)
NM_004992.3(MECP2):c.735C>G (p.Val245=) rs782027467
NM_004992.3(MECP2):c.744C>G (p.Ile248Met)
NM_004992.3(MECP2):c.749_750insT (p.Gly252fs)
NM_004992.3(MECP2):c.750C>A (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.750C>T (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.76C>G (p.Leu26Val)
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.808del (p.Arg270fs) rs62931162
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.839_841CCG[1] (p.Ala281del) rs1569548405
NM_004992.3(MECP2):c.840del (p.Ala281fs) rs1557136332
NM_004992.3(MECP2):c.852_855AAAG[1] (p.Lys286fs) rs61750256
NM_004992.3(MECP2):c.859G>C (p.Ala287Pro) rs61750257
NM_004992.3(MECP2):c.861C>T (p.Ala287=) rs139378224
NM_004992.3(MECP2):c.889C>T (p.Gln297Ter) rs61751367
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.905C>T (p.Pro302Leu) rs61749723
NM_004992.3(MECP2):c.912G>C (p.Lys304Asn)
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.942C>T (p.Ile314=) rs61751446
NM_004992.3(MECP2):c.946_1212del (p.Val316_Glu404del)
NM_004992.3(MECP2):c.995G>A (p.Ser332Asn)
NM_004992.3(MECP2):c.997_1001del (p.Gly333fs) rs1569548376

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