ClinVar Miner

List of variants reported as likely pathogenic for atypical Rett syndrome by Centre for Population Genomics, CPG

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.-7_62del (p.Met1_Leu21del)
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.1030_1034del (p.Ser344fs) rs267608558
NM_001110792.2(MECP2):c.1030_1382del (p.Ser344fs) rs1557135016
NM_001110792.2(MECP2):c.1040_1073del (p.Gly347fs) rs267608376
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.1079_1092del (p.Glu360fs) rs267608380
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.1087_1090del (p.Pro363fs) rs267608377
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs) rs1557135338
NM_001110792.2(MECP2):c.1095_1108del (p.Arg366fs) rs267608378
NM_001110792.2(MECP2):c.1097_1098del (p.Arg366fs) rs2148661347
NM_001110792.2(MECP2):c.1097_1110del (p.Arg366fs) rs267608381
NM_001110792.2(MECP2):c.1124_1151del (p.Lys375fs) rs267608385
NM_001110792.2(MECP2):c.1133_1239del (p.His378fs) rs1557135285
NM_001110792.2(MECP2):c.1135_1154del (p.His379fs) rs267608567
NM_001110792.2(MECP2):c.1141_1261del (p.His381fs) rs1557135213
NM_001110792.2(MECP2):c.1141del (p.His381fs) rs267608568
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs) rs1557135447
NM_001110792.2(MECP2):c.1159_1238del (p.Ser387fs) rs1557135299
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_*568delinsCCGTGG (p.Lys389fs) rs1557134378
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.1168_1195del (p.Ala390fs) rs267608348
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.1189_1226del (p.Pro397fs) rs267608577
NM_001110792.2(MECP2):c.1191_1219del (p.Pro399fs) rs267608580
NM_001110792.2(MECP2):c.1192_1193dup (p.Pro399fs) rs267608584
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs) rs2065917262
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) rs267608592
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs) rs267608339
NM_001110792.2(MECP2):c.1199_1209del (p.Pro400fs) rs267608334
NM_001110792.2(MECP2):c.1200_1230del (p.Pro403fs) rs786205020
NM_001110792.2(MECP2):c.1200del (p.Pro401fs) rs267608606
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer) rs267608609
NM_001110792.2(MECP2):c.1209_1224del (p.Glu404fs) rs267608369
NM_001110792.2(MECP2):c.1214_1221del (p.Pro405fs) rs267608383
NM_001110792.2(MECP2):c.1225_1232del (p.Glu409fs) rs267608338
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs) rs267608610
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs) rs1557135137
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs) rs267608612
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs) rs267608614
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs) rs267608615
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs) rs63749038
NM_001110792.2(MECP2):c.1268_1272del (p.Ser423fs) rs267608351
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs) rs267608617
NM_001110792.2(MECP2):c.1274_1302del (p.Cys425fs) rs267608374
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.1307_1452del (p.Leu436fs) rs1557134923
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs) rs63749065
NM_001110792.2(MECP2):c.1374_1390del (p.Ala459fs)
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) rs267608424
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs) rs267608634
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del) rs267608637
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.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp) rs267608642
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs) rs267608428
NM_001110792.2(MECP2):c.162dup (p.His55fs) rs61754430
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.230C>G (p.Ser77Ter) rs61754437
NM_001110792.2(MECP2):c.237del (p.Ser80fs) rs61754438
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter) rs267608438
NM_001110792.2(MECP2):c.262del (p.Glu88fs)
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs) rs63749009
NM_001110792.2(MECP2):c.310G>T (p.Gly104Ter) rs267608445
NM_001110792.2(MECP2):c.311dup (p.Pro105fs) rs267608446
NM_001110792.2(MECP2):c.321_322insAAAAAAA (p.Asp108fs)
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.331_333del (p.Thr111del) rs267608449
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>T (p.Pro113Leu) rs61754453
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.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.381del (p.Ser128fs) rs61755761
NM_001110792.2(MECP2):c.398A>G (p.Asp133Gly) rs61755762
NM_001110792.2(MECP2):c.407T>G (p.Leu136Trp)
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile)
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.434G>C (p.Arg145Pro) rs61748389
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.447del (p.Glu149fs) rs61748393
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter) rs267608475
NM_001110792.2(MECP2):c.456del (p.Tyr153fs) rs267608476
NM_001110792.2(MECP2):c.464_465insT (p.Glu155fs) rs61748398
NM_001110792.2(MECP2):c.475del (p.Asp159fs) rs62952161
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.487del (p.Asp163fs) rs61748402
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.491C>T (p.Pro164Leu)
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.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.506dup (p.Thr170fs) rs267608482
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer) rs267608485
NM_001110792.2(MECP2):c.514dup (p.Thr172fs)
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.531del (p.Ser178fs) rs267608489
NM_001110792.2(MECP2):c.542_543dup (p.Gln182fs)
NM_001110792.2(MECP2):c.559A>T (p.Lys187Ter) rs61748428
NM_001110792.2(MECP2):c.567del (p.Lys189fs) rs61749703
NM_001110792.2(MECP2):c.590del (p.Gly197fs) rs61749707
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001110792.2(MECP2):c.62+2_62+3del rs786205049
NM_001110792.2(MECP2):c.63-6C>G rs267608411
NM_001110792.2(MECP2):c.637dup (p.Ala213fs) rs267608503
NM_001110792.2(MECP2):c.644_645insA (p.Ser216fs) rs267608506
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.677_689del (p.Glu226fs) rs267608386
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr) rs267608513
NM_001110792.2(MECP2):c.710C>T (p.Pro237Leu) rs61749715
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter)
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs) rs1557136493
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs) rs1557135125
NM_001110792.2(MECP2):c.751del (p.Ala251fs) rs61749744
NM_001110792.2(MECP2):c.767_1202del (p.Gln256fs) rs1557135670
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs) rs267608520
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs) rs1557136549
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs) rs61749751
NM_001110792.2(MECP2):c.789_790dup (p.Gly264fs)
NM_001110792.2(MECP2):c.796A>T (p.Lys266Ter) rs63259763
NM_001110792.2(MECP2):c.804_805insAAAAAAA (p.Ala269fs)
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs) rs267608526
NM_001110792.2(MECP2):c.843_*125del (p.Gly281_Ter499delinsXaa) rs1557134716
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs) rs61750242
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del) rs1557135541
NM_001110792.2(MECP2):c.865del (p.Ala289fs)
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs) rs1557136146
NM_001110792.2(MECP2):c.878_879insT (p.Glu294fs)
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.890dup (p.Lys298fs) rs267608531
NM_001110792.2(MECP2):c.900dup (p.Lys301fs) rs267608535
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.907_1080del (p.Ile305_Ser362del) rs1557136013
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs) rs61751364
NM_001110792.2(MECP2):c.919del (p.Ser307fs) rs267608541
NM_001110792.2(MECP2):c.92dup (p.Leu33fs) rs267608417
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs) rs1557135907
NM_001110792.2(MECP2):c.934_940del (p.Val312fs) rs267608543
NM_001110792.2(MECP2):c.934del (p.Val312fs) rs267608544
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu) rs1557135788
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.947A>G (p.Lys316Arg) rs267608550
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr)
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.951G>T (p.Lys317Asn) rs1057519543
NM_001110792.2(MECP2):c.953G>T (p.Arg318Leu) rs61751443
NM_001323289.2(CDKL5):c.1008_1030del (p.Ser337fs)
NM_001323289.2(CDKL5):c.1151dup (p.Tyr384Ter)
NM_001323289.2(CDKL5):c.146-814_282+981del
NM_001323289.2(CDKL5):c.1589dup (p.Thr531fs)
NM_001323289.2(CDKL5):c.1952_1955dup (p.Leu653fs)
NM_001323289.2(CDKL5):c.2203_2233dup (p.Ser745Ter)
NM_001323289.2(CDKL5):c.255dup (p.Tyr86fs)
NM_001323289.2(CDKL5):c.433del (p.His145fs)
NM_005249.5(FOXG1):c.133_469delinsACCCACCGCCCC (p.Pro45fs)
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del) rs2138661060
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu) rs587783638
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly) rs587783638
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg) rs2138661161
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) rs1881802605
NM_005249.5(FOXG1):c.610C>T (p.Leu204Phe) rs786205006
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys) rs1594383704
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) rs786205007
NM_005249.5(FOXG1):c.695A>G (p.Asn232Ser) rs2138661390
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val) rs587783640
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.761A>C (p.Tyr254Ser)
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011

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