ClinVar Miner

List of variants in gene MECP2 reported as not provided by RettBASE

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Gene type:
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Total variants: 92
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HGVS dbSNP
NM_001110792.2(MECP2):c.414-3_419del rs267608466
NM_004992.3(MECP2):c.*796_*822del rs267608375
NM_004992.3(MECP2):c.1004_1037del (p.Gly335fs) rs267608376
NM_004992.3(MECP2):c.1014C>T (p.Thr338=) rs267608400
NM_004992.3(MECP2):c.1029del (p.Arg344fs) rs61751457
NM_004992.3(MECP2):c.1029dup (p.Arg344fs) rs61751457
NM_004992.3(MECP2):c.1043_1056del (p.Glu348fs) rs267608380
NM_004992.3(MECP2):c.1051_1054del (p.Pro351fs) rs267608377
NM_004992.3(MECP2):c.1051_1065del (p.Pro351_Ser355del) rs267608384
NM_004992.3(MECP2):c.1059_1072del (p.Arg354fs) rs267608378
NM_004992.3(MECP2):c.1061_1074del (p.Arg354fs) rs267608381
NM_004992.3(MECP2):c.1088_1115del (p.Lys363fs) rs267608385
NM_004992.3(MECP2):c.1104C>T (p.His368=) rs61752382
NM_004992.3(MECP2):c.1105_1116del (p.His369_His372del) rs267608371
NM_004992.3(MECP2):c.1125_1137del (p.Pro376fs) rs267608340
NM_004992.3(MECP2):c.1129_1133delinsGAGT (p.Lys377fs) rs267608379
NM_004992.3(MECP2):c.1132_1159del (p.Ala378fs) rs267608348
NM_004992.3(MECP2):c.1136_1142del (p.Pro379fs) rs267608389
NM_004992.3(MECP2):c.1138_1163del (p.Val380fs) rs267608382
NM_004992.3(MECP2):c.1148_1177del (p.Leu383_Glu392del) rs267608350
NM_004992.3(MECP2):c.1155_1172del (p.Leu386_Pro391del) rs267608392
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1159_1174del (p.Pro387fs) rs267608373
NM_004992.3(MECP2):c.1161_1163del (p.Pro391del) rs267608339
NM_004992.3(MECP2):c.1161_1166del (p.Pro390_Pro391del) rs267608332
NM_004992.3(MECP2):c.1161_1169del (p.Pro389_Pro391del) rs267608401
NM_004992.3(MECP2):c.1163_1173del (p.Pro388fs) rs267608334
NM_004992.3(MECP2):c.1163_1197del (p.Pro388fs) rs267608589
NM_004992.3(MECP2):c.1167_1176del (p.Pro391fs) rs267608349
NM_004992.3(MECP2):c.1173_1188del (p.Glu392fs) rs267608369
NM_004992.3(MECP2):c.1176_1193del (p.Glu392_Glu397del) rs267608335
NM_004992.3(MECP2):c.1178C>T (p.Pro393Leu) rs267608402
NM_004992.3(MECP2):c.1178_1185del (p.Pro393fs) rs267608383
NM_004992.3(MECP2):c.1180_1205del (p.Glu394fs) rs267608333
NM_004992.3(MECP2):c.1181_1191del (p.Glu394fs) rs267608403
NM_004992.3(MECP2):c.1185_1191del (p.Ser395fs) rs63749018
NM_004992.3(MECP2):c.1189_1196del (p.Glu397fs) rs267608338
NM_004992.3(MECP2):c.1189_1231inv (p.Glu397_Ser411delinsCysCysSerSerProGlyAlaGlnGlyGlyTrpTrpGlyProArg)
NM_004992.3(MECP2):c.1197_1237inv (p.Thr400_Cys413delinsAspAlaAlaAlaGlnValLeuGlyLeuArgGlyAlaGlyGly)
NM_004992.3(MECP2):c.1232_1236del (p.Ser411fs) rs267608351
NM_004992.3(MECP2):c.1232_1240del (p.Ser411_Cys413del) rs63749027
NM_004992.3(MECP2):c.1238_1266del (p.Cys413fs) rs267608374
NM_004992.3(MECP2):c.1326_1334del (p.442_444TAA[1]) rs267608404
NM_004992.3(MECP2):c.1363G>T (p.Glu455Ter) rs104894864
NM_004992.3(MECP2):c.1448_*29del (p.Glu483fs) rs267608393
NM_004992.3(MECP2):c.1449G>C (p.Glu483Asp) rs267608336
NM_004992.3(MECP2):c.1459T>C (p.Ter487Arg) rs267608337
NM_004992.3(MECP2):c.1460G>T (p.Ter487Leu) rs267608399
NM_004992.3(MECP2):c.26+2T>A rs267608409
NM_004992.3(MECP2):c.27-2A>G rs267608412
NM_004992.3(MECP2):c.27-55G>A rs267608414
NM_004992.3(MECP2):c.27-6C>G rs267608411
NM_004992.3(MECP2):c.27-8C>G rs267608410
NM_004992.3(MECP2):c.27-9A>G rs267608413
NM_004992.3(MECP2):c.276_277insG (p.Pro93fs) rs267608405
NM_004992.3(MECP2):c.334A>T (p.Lys112Ter) rs267608398
NM_004992.3(MECP2):c.343C>T (p.Arg115Cys) rs267608388
NM_004992.3(MECP2):c.377+18C>G rs267608461
NM_004992.3(MECP2):c.377+1G>A rs267608463
NM_004992.3(MECP2):c.377+1G>T rs267608463
NM_004992.3(MECP2):c.377+22C>G rs2075597
NM_004992.3(MECP2):c.377+24C>A rs267608462
NM_004992.3(MECP2):c.377+266T>C rs2075596
NM_004992.3(MECP2):c.377+28A>G rs185036026
NM_004992.3(MECP2):c.377+2T>G rs267608458
NM_004992.3(MECP2):c.377+6_377+9del rs267608459
NM_004992.3(MECP2):c.377+95G>A rs267608460
NM_004992.3(MECP2):c.378-109A>G rs3850326
NM_004992.3(MECP2):c.378-14G>A rs267608467
NM_004992.3(MECP2):c.378-17del rs61753982
NM_004992.3(MECP2):c.378-241C>T rs3027931
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.378-61C>G rs191076920
NM_004992.3(MECP2):c.378-74C>G rs2071569
NM_004992.3(MECP2):c.378-74C>T rs2071569
NM_004992.3(MECP2):c.438C>T (p.Gly146=) rs61748386
NM_004992.3(MECP2):c.464T>G (p.Phe155Cys) rs28934905
NM_004992.3(MECP2):c.468C>T (p.Asp156=) rs61748408
NM_004992.3(MECP2):c.528C>G (p.Pro176=) rs61754420
NM_004992.3(MECP2):c.617G>A (p.Gly206Asp) rs63485860
NM_004992.3(MECP2):c.641_653del (p.Glu214fs) rs267608386
NM_004992.3(MECP2):c.710G>T (p.Gly237Val) rs62846063
NM_004992.3(MECP2):c.750C>A (p.Arg250=) rs61748424
NM_004992.3(MECP2):c.752_753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.802C>T (p.Arg268Trp) rs61750239
NM_004992.3(MECP2):c.808C>G (p.Arg270Gly) rs61750240
NM_004992.3(MECP2):c.917G>T (p.Arg306Leu) rs61751443
NM_004992.3(MECP2):c.965_970del (p.Pro322_Leu323del) rs61751452
NM_004992.3(MECP2):c.989_991AGA[1] (p.Lys331del) rs61751456

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