ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NC_000023.10:g.(?_153285725)_(153296182_?)del
NC_000023.10:g.(?_153288018)_(153296120_?)del
NC_000023.10:g.(?_153292262)_(153297628_?)del
NC_000023.10:g.(?_153292375)_(153296122_?)del
NC_000023.10:g.(?_153292923)_(153296117_?)del
NC_000023.10:g.(?_153294907)_(153296120_?)del
NC_000023.10:g.(?_153294955)_(153296040_?)del
NC_000023.10:g.(?_153295063)_(153296130_?)del
NC_000023.10:g.(?_153295250)_(153296129_?)del
NC_000023.10:g.(?_153295412)_(153306710_?)del
NC_000023.10:g.(?_153295424)_(153296139_?)del
NC_000023.10:g.(?_153295526)_(153296087_?)del
NC_000023.10:g.(?_153295580)_(153296752_?)del
NC_000023.10:g.(?_153295726)_(153298028_?)del
NC_000023.10:g.(?_153295726)_(153363142_?)dup
NC_000023.10:g.(?_153295798)_(153298028_?)del
NC_000023.10:g.(?_153295885)_(153296418_?)del
NC_000023.10:g.(?_153295985)_(153299903_?)del
NC_000023.10:g.(?_153296038)_(153299936_?)del
NC_000023.10:g.(?_153296083)_(153297178_?)del
NC_000023.10:g.(?_153296084)_(153300925_?)del
NC_000023.10:g.(?_153296084)_(153338974_?)del
NC_000023.10:g.(?_153296086)_(153297264_?)del
NC_000023.10:g.(?_153296091)_(153303781_?)del
NC_000023.10:g.(?_153296093)_(153303797_?)del
NC_000023.10:g.(?_153296108)_(153301856_?)del
NC_000023.10:g.(?_153296109)_(153297633_?)del
NC_000023.10:g.(?_153296109)_(153302497_?)del
NC_000023.10:g.(?_153296112)_(153302496_?)del
NC_000023.10:g.(?_153296119)_(153305088_?)del
NC_000023.10:g.(?_153296136)_(153302300_?)del
NC_000023.10:g.(?_153296141)_(153303786_?)del
NC_000023.10:g.(?_153296154)_153302832del
NC_000023.10:g.(?_153296180)_(153302766_?)del
NC_000023.10:g.(?_153296231)_(153303837_?)del
NC_000023.10:g.(?_153296339)_(153306264_?)del
NC_000023.10:g.(?_153297634)_(153298028_?)del
NC_000023.10:g.(?_153357622)_(153363142_?)del
NC_000023.10:g.(?_153357632)_(153363122_?)del
NC_000023.10:g.(?_153363041)_(153363142_?)del
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu) rs61751450
NM_001110792.2(MECP2):c.1007_1364del (p.Leu336fs)
NM_001110792.2(MECP2):c.1019_1233del (p.Leu340fs) rs2065914451
NM_001110792.2(MECP2):c.1020_1021insA (p.Gly341fs) rs2148661665
NM_001110792.2(MECP2):c.1030_1031del (p.Ser344fs)
NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) rs1569548376
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs) rs1557135418
NM_001110792.2(MECP2):c.1055dup (p.Ser353fs) rs1557136059
NM_001110792.2(MECP2):c.1075_1300delinsCCAAAGGCCCCCGTGCCACT (p.Lys359fs)
NM_001110792.2(MECP2):c.1078_1248delinsT (p.Glu360fs)
NM_001110792.2(MECP2):c.1083_1231delinsGTGTCTGCATACCTGA (p.Ser361_Pro411delinsArgCysLeuHisThrTer)
NM_001110792.2(MECP2):c.1087_1209delinsACCACCACCA (p.Pro363fs)
NM_001110792.2(MECP2):c.1120_1252del (p.Pro374fs) rs2148659417
NM_001110792.2(MECP2):c.1122_1265delinsAAGTCCTGGGGCT (p.Lys375fs)
NM_001110792.2(MECP2):c.1122del (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs) rs587783092
NM_001110792.2(MECP2):c.1126A>T (p.Lys376Ter)
NM_001110792.2(MECP2):c.1136_*557del (p.His379fs)
NM_001110792.2(MECP2):c.1136_1215del (p.His379fs)
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001110792.2(MECP2):c.1152_1237del (p.His384fs) rs1557135314
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1163_1187del (p.Pro388fs)
NM_001110792.2(MECP2):c.1163_1233del (p.Pro388fs)
NM_001110792.2(MECP2):c.1168_1238del (p.Ala390fs) rs1557135295
NM_001110792.2(MECP2):c.1170_1183del (p.Val392fs) rs2148660771
NM_001110792.2(MECP2):c.1171_1178del (p.Pro391fs) rs267608571
NM_001110792.2(MECP2):c.1172_1215del (p.Pro391fs) rs2148660220
NM_001110792.2(MECP2):c.1173del (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1173dup (p.Val392fs) rs1557135793
NM_001110792.2(MECP2):c.1174_1199del (p.Val392fs) rs267608382
NM_001110792.2(MECP2):c.1179_1183del (p.Leu394fs)
NM_001110792.2(MECP2):c.1179_1186del (p.Leu394fs) rs2148660746
NM_001110792.2(MECP2):c.1180dup (p.Leu394fs) rs2148660777
NM_001110792.2(MECP2):c.1184_1228delinsC (p.Leu395fs)
NM_001110792.2(MECP2):c.1187_1224del (p.Pro396fs) rs267608574
NM_001110792.2(MECP2):c.1188_1207del (p.Pro396_Pro397insTer) rs1557135631
NM_001110792.2(MECP2):c.1188_1226delinsGGAGCTCTCGGGTGGTGGT (p.Pro397fs)
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs) rs267608372
NM_001110792.2(MECP2):c.1190_1226delinsAACAGAATTCACCACCGTAACCATTTGGAGCACAGCAGGCTCGAATCCAGCTCCATCCTGGGACCTAATGGCCGTCTATGCAGCAGACTCGGATCCACCTGCGTCCTGGGATG (p.Pro397_Glu409delinsGlnGlnAsnSerProProTer) rs1569548307
NM_001110792.2(MECP2):c.1190_1269del (p.Pro397fs)
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
NM_001110792.2(MECP2):c.1192_1202del (p.Leu398fs)
NM_001110792.2(MECP2):c.1192_1224del (p.Leu398_Ser408del) rs1569548314
NM_001110792.2(MECP2):c.1192dup (p.Leu398fs)
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_1236del (p.Leu398fs) rs63749748
NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)
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.1195_1279del (p.Pro399fs) rs2065908727
NM_001110792.2(MECP2):c.1196_1275del (p.Pro399fs)
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.1199_1204delinsTCAGGTATAT (p.Pro400fs)
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.1199del (p.Pro400fs) rs267608339
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.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
NM_001110792.2(MECP2):c.1201_1226del (p.Pro401fs) rs267608607
NM_001110792.2(MECP2):c.1201_1237del (p.Pro401fs) rs2148659670
NM_001110792.2(MECP2):c.1203_1236del (p.Pro402fs) rs267608343
NM_001110792.2(MECP2):c.1213_1226del (p.Pro405fs)
NM_001110792.2(MECP2):c.1222_1313del (p.Ser408fs)
NM_001110792.2(MECP2):c.1223_1365del (p.Ser408fs)
NM_001110792.2(MECP2):c.1243_*586del (p.Pro415fs)
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer) rs781843758
NM_001110792.2(MECP2):c.1252C>T (p.Gln418Ter) rs61753965
NM_001110792.2(MECP2):c.1267_*76del (p.Val424fs)
NM_001110792.2(MECP2):c.1268dup (p.Ser423fs) rs2148659330
NM_001110792.2(MECP2):c.1275_*863del (p.Cys425_Ter499delinsXaa)
NM_001110792.2(MECP2):c.1277_1278del (p.Lys426fs) rs2148659257
NM_001110792.2(MECP2):c.1303_1334del (p.Ser435_Leu436insTer)
NM_001110792.2(MECP2):c.1314_1315insCGTCACTA (p.Asp439delinsArgHisTer) rs2065907185
NM_001110792.2(MECP2):c.1328dup (p.Glu444fs) rs2148658967
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs) rs61753972
NM_001110792.2(MECP2):c.1352_1353del (p.Ala451fs) rs1557135091
NM_001110792.2(MECP2):c.136_139del (p.Asp46fs) rs61754428
NM_001110792.2(MECP2):c.1384dup (p.Tyr462fs) rs1557135004
NM_001110792.2(MECP2):c.140_144del (p.Lys47fs) rs2148667088
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs) rs2065902096
NM_001110792.2(MECP2):c.144_147del (p.Glu49fs) rs267608426
NM_001110792.2(MECP2):c.1490_1493del (p.Val497fs) rs267608640
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.20_27dup (p.Ser10fs)
NM_001110792.2(MECP2):c.214G>A (p.Gly72Ser)
NM_001110792.2(MECP2):c.225_226del (p.Glu75fs) rs61754436
NM_001110792.2(MECP2):c.230C>A (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.231del (p.Glu78fs) rs2148666876
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.280A>T (p.Lys94Ter) rs1603310794
NM_001110792.2(MECP2):c.283C>T (p.Gln95Ter) rs2148666695
NM_001110792.2(MECP2):c.331dup (p.Thr111fs) rs1603310755
NM_001110792.2(MECP2):c.337_1247del911 (p.Pro113fs)
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg) rs61754453
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter) rs61754455
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.408G>T (p.Leu136Phe) rs61755763
NM_001110792.2(MECP2):c.414-3C>G rs267608465
NM_001110792.2(MECP2):c.414-3_419del rs267608466
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.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) rs1557150846
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.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.439A>G (p.Lys147Glu) rs61748391
NM_001110792.2(MECP2):c.446A>G (p.Glu149Gly) rs61748392
NM_001110792.2(MECP2):c.44_57del (p.Gly15fs)
NM_001110792.2(MECP2):c.450G>C (p.Leu150Phe)
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
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.47_57del (p.Gly16fs) rs786205042
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.491_1199delinsTGCGT (p.Pro164fs)
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu) rs61748408
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu) rs267608484
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.524_525del (p.Gly175fs) rs267608488
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.541G>T (p.Glu181Ter) rs1603309480
NM_001110792.2(MECP2):c.544C>T (p.Gln182Ter) rs61748425
NM_001110792.2(MECP2):c.573_574insT (p.Lys192Ter) rs2148663769
NM_001110792.2(MECP2):c.616_670del (p.Gly207fs)
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.63-1928_1277del
NM_001110792.2(MECP2):c.63-2A>G rs267608412
NM_001110792.2(MECP2):c.63-4487_1204del
NM_001110792.2(MECP2):c.63-5778_1174del
NM_001110792.2(MECP2):c.63-7080_1196del
NM_001110792.2(MECP2):c.670del (p.Val224fs) rs2065950974
NM_001110792.2(MECP2):c.674dup (p.Glu226fs) rs2148663296
NM_001110792.2(MECP2):c.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.726del (p.Gly244fs) rs1064793576
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.744_751del (p.Gly249fs) rs2065947222
NM_001110792.2(MECP2):c.745_746del (p.Gly249fs)
NM_001110792.2(MECP2):c.746del (p.Gly249fs) rs61749743
NM_001110792.2(MECP2):c.746dup (p.Gly250fs) rs61749743
NM_001110792.2(MECP2):c.74C>G (p.Ser25Ter) rs2148667313
NM_001110792.2(MECP2):c.762del (p.Thr255fs)
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter) rs61749747
NM_001110792.2(MECP2):c.785_786insT (p.Gly264fs) rs1603308957
NM_001110792.2(MECP2):c.785_788dup (p.Gly264fs)
NM_001110792.2(MECP2):c.789del (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.798_837del (p.Lys266fs) rs2148662532
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.842dup (p.Arg282fs)
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.844del (p.Arg282fs) rs62931162
NM_001110792.2(MECP2):c.876del (p.Ala293fs) rs1557136332
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs) rs61750256
NM_001110792.2(MECP2):c.898_1014del (p.Val300_Ser338del) rs2148661699
NM_001110792.2(MECP2):c.904dup (p.Glu302fs)
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.912_916del (p.Arg306fs)
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.925C>T (p.Gln309Ter) rs61751367
NM_001110792.2(MECP2):c.933_968del (p.Leu313_Val324del) rs2065935510
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.948G>C (p.Lys316Asn) rs1603308358
NM_001110792.2(MECP2):c.949A>T (p.Lys317Ter)
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
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>C (p.Arg318Pro) rs61751443
NM_001110792.2(MECP2):c.954_962del (p.Lys319_Arg321del) rs2148661892
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001110792.2(MECP2):c.970dup (p.Val324fs) rs2148661854
NM_001110792.2(MECP2):c.982_1248del (p.Val328_Glu416del) rs1603307604
NM_001110792.2(MECP2):c.984_1023del (p.Lys329fs) rs2148661645

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