ClinVar Miner

List of variants reported as uncertain significance for Severe neonatal-onset encephalopathy with microcephaly

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001110792.2(MECP2):c.1177C>T (p.Pro393Ser) rs61752981 0.00004
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.1049C>G (p.Thr350Ser) rs786204313 0.00002
NM_001110792.2(MECP2):c.1168G>A (p.Ala390Thr) rs587783106 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr) rs1240023402 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.242G>T (p.Gly81Val) rs1557137890 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.908C>G (p.Ser303Cys) rs1326849768 0.00002
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1129_1134del (p.Glu377_His378del) rs2065928263 0.00001
NM_001110792.2(MECP2):c.1141C>T (p.His381Tyr) rs1346803557 0.00001
NM_001110792.2(MECP2):c.118T>C (p.Phe40Leu) rs1557137994 0.00001
NM_001110792.2(MECP2):c.1354G>C (p.Val452Leu) rs1557135085 0.00001
NM_001110792.2(MECP2):c.236G>T (p.Gly79Val) rs150900180 0.00001
NM_001110792.2(MECP2):c.290G>A (p.Arg97His) rs782226571 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.358C>G (p.Leu120Val) rs1557137721 0.00001
NM_001110792.2(MECP2):c.40G>A (p.Gly14Arg) rs1392399136 0.00001
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) rs1333935838 0.00001
NM_001110792.2(MECP2):c.464A>C (p.Glu155Ala) rs1557137072 0.00001
NM_001110792.2(MECP2):c.477C>G (p.Asp159Glu) rs782468872 0.00001
NM_001110792.2(MECP2):c.554C>G (p.Pro185Arg) rs267608492 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.68A>G (p.Glu23Gly) rs782735472 0.00001
NM_001110792.2(MECP2):c.724C>G (p.Pro242Ala) rs1209806388 0.00001
NM_001110792.2(MECP2):c.745G>A (p.Gly249Ser) rs782493538 0.00001
NM_001110792.2(MECP2):c.80A>C (p.Asp27Ala) rs1557138051 0.00001
NM_001110792.2(MECP2):c.826A>G (p.Ile276Val) rs1181961523 0.00001
NM_001110792.2(MECP2):c.911C>G (p.Ser304Cys) rs1557136290 0.00001
NM_001110792.2(MECP2):c.913A>G (p.Ile305Val) rs1557136286 0.00001
NC_000023.10:g.(?_153295726)_(153298028_?)dup
NC_000023.10:g.(?_153295818)_(153298028_?)dup
NC_000023.10:g.(?_153296122)_(153316446_?)dup
NC_000023.10:g.(?_153297634)_(153298028_?)dup
NC_000023.10:g.(?_153357622)_(153363122_?)dup
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser) rs61751449
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1026G>C (p.Glu342Asp)
NM_001110792.2(MECP2):c.1029G>C (p.Lys343Asn)
NM_001110792.2(MECP2):c.1030A>G (p.Ser344Gly) rs2148661618
NM_001110792.2(MECP2):c.1031G>A (p.Ser344Asn) rs896762572
NM_001110792.2(MECP2):c.1061C>G (p.Pro354Arg) rs1569548372
NM_001110792.2(MECP2):c.1064_1246del (p.Gly355_Pro415del) rs1603307609
NM_001110792.2(MECP2):c.1072A>G (p.Ser358Gly)
NM_001110792.2(MECP2):c.1074C>G (p.Ser358Arg) rs61752365
NM_001110792.2(MECP2):c.1075A>C (p.Lys359Gln) rs2148661453
NM_001110792.2(MECP2):c.1080G>C (p.Glu360Asp)
NM_001110792.2(MECP2):c.1087_1101del (p.Pro363_Ser367del) rs267608384
NM_001110792.2(MECP2):c.1088C>T (p.Pro363Leu)
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) rs2148661393
NM_001110792.2(MECP2):c.1093G>A (p.Gly365Arg)
NM_001110792.2(MECP2):c.1099AGC[2] (p.Ser369del) rs267608564
NM_001110792.2(MECP2):c.10G>A (p.Ala4Thr) rs781875210
NM_001110792.2(MECP2):c.1100G>A (p.Ser367Asn)
NM_001110792.2(MECP2):c.1108G>T (p.Ala370Ser) rs147017239
NM_001110792.2(MECP2):c.1111T>G (p.Ser371Ala)
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.1123_1251del (p.Lys375_Pro417del)
NM_001110792.2(MECP2):c.112C>G (p.Leu38Val) rs1603310890
NM_001110792.2(MECP2):c.112C>T (p.Leu38Phe)
NM_001110792.2(MECP2):c.1132C>G (p.His378Asp) rs2065928374
NM_001110792.2(MECP2):c.1133_1231del (p.His378_Asp410del)
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.1138C>G (p.His380Asp) rs781968415
NM_001110792.2(MECP2):c.1140C>G (p.His380Gln)
NM_001110792.2(MECP2):c.1141_1152del (p.His381_His384del) rs267608371
NM_001110792.2(MECP2):c.1143_1145del (p.His384del) rs2148661055
NM_001110792.2(MECP2):c.1151_1357del (p.His384_Ala453delinsPro) rs1557135080
NM_001110792.2(MECP2):c.1152C>G (p.His384Gln)
NM_001110792.2(MECP2):c.1163C>G (p.Pro388Arg) rs61752976
NM_001110792.2(MECP2):c.1165_1179del (p.Lys389_Pro393del) rs2065924353
NM_001110792.2(MECP2):c.1167G>C (p.Lys389Asn)
NM_001110792.2(MECP2):c.1179_1190del (p.Leu395_Leu398del) rs2148660709
NM_001110792.2(MECP2):c.1181_1201del (p.Leu394_Pro400del)
NM_001110792.2(MECP2):c.1182_1229del (p.Leu395_Asp410del) rs2148659904
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1188_1208del (p.Pro397_Pro403del)
NM_001110792.2(MECP2):c.1190C>G (p.Pro397Arg)
NM_001110792.2(MECP2):c.1191_1205del (p.Leu398_Pro402del) rs2148660412
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1197_1205del (p.Pro401_Pro403del) rs267608401
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1199_1237del (p.Pro400_Ser413delinsArg) rs267608602
NM_001110792.2(MECP2):c.11C>T (p.Ala4Val) rs1182354883
NM_001110792.2(MECP2):c.1200_1208del (p.Pro401_Pro403del) rs267608604
NM_001110792.2(MECP2):c.1200_1220del (p.Pro401_Ser407del) rs1557135539
NM_001110792.2(MECP2):c.1200_1223del (p.Pro401_Ser408del) rs2148660070
NM_001110792.2(MECP2):c.1202C>G (p.Pro401Arg)
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
NM_001110792.2(MECP2):c.1211_1234del (p.Glu404_Thr412delinsAla)
NM_001110792.2(MECP2):c.1213C>T (p.Pro405Ser)
NM_001110792.2(MECP2):c.1214C>T (p.Pro405Leu) rs267608402
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) rs1603307813
NM_001110792.2(MECP2):c.1239C>G (p.Ser413Arg)
NM_001110792.2(MECP2):c.1242_1244del (p.Pro415del)
NM_001110792.2(MECP2):c.1243C>A (p.Pro415Thr)
NM_001110792.2(MECP2):c.1244C>A (p.Pro415His) rs587783107
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1268G>C (p.Ser423Thr) rs2065909517
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) rs782598922
NM_001110792.2(MECP2):c.1279GAG[1] (p.Glu428del) rs781918838
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1288A>G (p.Met430Val)
NM_001110792.2(MECP2):c.1309G>C (p.Glu437Gln)
NM_001110792.2(MECP2):c.1316_1318del (p.Asp439del) rs2065906988
NM_001110792.2(MECP2):c.1327A>G (p.Lys443Glu)
NM_001110792.2(MECP2):c.1331A>G (p.Glu444Gly)
NM_001110792.2(MECP2):c.1334C>A (p.Pro445Gln)
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
NM_001110792.2(MECP2):c.1357G>A (p.Ala453Thr)
NM_001110792.2(MECP2):c.1361C>A (p.Thr454Asn)
NM_001110792.2(MECP2):c.1363GCC[1] (p.Ala456del)
NM_001110792.2(MECP2):c.1367C>T (p.Ala456Val)
NM_001110792.2(MECP2):c.136G>T (p.Asp46Tyr)
NM_001110792.2(MECP2):c.1383G>C (p.Lys461Asn)
NM_001110792.2(MECP2):c.1384T>C (p.Tyr462His) rs2065903736
NM_001110792.2(MECP2):c.1392C>A (p.His464Gln)
NM_001110792.2(MECP2):c.1403G>A (p.Gly468Glu)
NM_001110792.2(MECP2):c.1403G>C (p.Gly468Ala)
NM_001110792.2(MECP2):c.1414G>T (p.Asp472Tyr) rs782747061
NM_001110792.2(MECP2):c.1427C>G (p.Ser476Cys)
NM_001110792.2(MECP2):c.1442C>T (p.Pro481Leu)
NM_001110792.2(MECP2):c.1459G>C (p.Val487Leu)
NM_001110792.2(MECP2):c.1463A>G (p.Asp488Gly)
NM_001110792.2(MECP2):c.1475C>T (p.Pro492Leu)
NM_001110792.2(MECP2):c.1490_*881delinsGAATCCCTCTCACCCCGCTGTGCTCTGCCCGGCCTGACCCCAGGCCAGCCTGCCTGCACCTTGTCCTACTGCCTCCATGGCCTCTAGCGCCACCCGTTGGAG (p.Val497fs)
NM_001110792.2(MECP2):c.152A>G (p.Lys51Arg)
NM_001110792.2(MECP2):c.189C>G (p.His63Gln) rs267608432
NM_001110792.2(MECP2):c.205G>A (p.Ala69Thr)
NM_001110792.2(MECP2):c.23C>A (p.Ala8Glu) rs2066906180
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.245C>G (p.Ser82Cys) rs2065987230
NM_001110792.2(MECP2):c.248C>G (p.Ala83Gly) rs1557137874
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.29G>C (p.Ser10Thr) rs2148770895
NM_001110792.2(MECP2):c.304G>C (p.Asp102His)
NM_001110792.2(MECP2):c.308G>A (p.Arg103Gln) rs782177397
NM_001110792.2(MECP2):c.308G>C (p.Arg103Pro)
NM_001110792.2(MECP2):c.311G>A (p.Gly104Glu) rs2148666605
NM_001110792.2(MECP2):c.313C>T (p.Pro105Ser) rs61754447
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro) rs2065984609
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.343G>A (p.Gly115Ser) rs2065984147
NM_001110792.2(MECP2):c.356A>G (p.Lys119Arg) rs2148666479
NM_001110792.2(MECP2):c.358C>T (p.Leu120Phe) rs1557137721
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.37G>C (p.Gly13Arg)
NM_001110792.2(MECP2):c.380G>A (p.Arg127His)
NM_001110792.2(MECP2):c.3_14dup (p.Ala8_Pro9insAlaAlaAlaAla)
NM_001110792.2(MECP2):c.3_8dup (p.Ala8_Pro9insAlaAla)
NM_001110792.2(MECP2):c.413+5G>A rs2148666320
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.413A>G (p.Asn138Ser) rs786205037
NM_001110792.2(MECP2):c.414-11T>A
NM_001110792.2(MECP2):c.424A>G (p.Lys142Glu)
NM_001110792.2(MECP2):c.427G>C (p.Ala143Pro)
NM_001110792.2(MECP2):c.42A>C (p.Gly14=)
NM_001110792.2(MECP2):c.43G>A (p.Gly15Arg) rs2148770843
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.463G>A (p.Glu155Lys) rs1233476760
NM_001110792.2(MECP2):c.464A>G (p.Glu155Gly)
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.49GAG[2] (p.Glu19del)
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.529C>T (p.Pro177Ser) rs2148663974
NM_001110792.2(MECP2):c.550C>A (p.Pro184Thr) rs61748426
NM_001110792.2(MECP2):c.550C>T (p.Pro184Ser) rs61748426
NM_001110792.2(MECP2):c.563C>T (p.Pro188Leu) rs61749701
NM_001110792.2(MECP2):c.56A>G (p.Glu19Gly) rs1557150848
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.580C>T (p.Pro194Ser)
NM_001110792.2(MECP2):c.589G>T (p.Gly197Cys)
NM_001110792.2(MECP2):c.62+3G>C rs2148770726
NM_001110792.2(MECP2):c.628_645dup (p.Arg210_Thr215dup) rs782003860
NM_001110792.2(MECP2):c.63-3C>A
NM_001110792.2(MECP2):c.634A>G (p.Lys212Glu)
NM_001110792.2(MECP2):c.659A>C (p.Gln220Pro)
NM_001110792.2(MECP2):c.659A>G (p.Gln220Arg) rs1603309169
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu) rs878853312
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val) rs782357529
NM_001110792.2(MECP2):c.6C>T (p.Ala2=)
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.6CGC[9] (p.Ala6_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.707T>A (p.Met236Lys)
NM_001110792.2(MECP2):c.708G>A (p.Met236Ile)
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.727G>T (p.Gly243Trp) rs587783139
NM_001110792.2(MECP2):c.737C>T (p.Ala246Val) rs138211345
NM_001110792.2(MECP2):c.73T>G (p.Ser25Ala) rs2065992065
NM_001110792.2(MECP2):c.746G>T (p.Gly249Val) rs62846063
NM_001110792.2(MECP2):c.748G>T (p.Gly250Trp)
NM_001110792.2(MECP2):c.782A>G (p.Lys261Arg)
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.785G>A (p.Arg262His) rs61750227
NM_001110792.2(MECP2):c.800G>C (p.Arg267Pro)
NM_001110792.2(MECP2):c.806C>T (p.Ala269Val)
NM_001110792.2(MECP2):c.809A>G (p.Glu270Gly)
NM_001110792.2(MECP2):c.814G>A (p.Asp272Asn)
NM_001110792.2(MECP2):c.817C>A (p.Pro273Thr)
NM_001110792.2(MECP2):c.822G>C (p.Gln274His)
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.839G>A (p.Arg280Gln)
NM_001110792.2(MECP2):c.851C>G (p.Pro284Arg) rs61750243
NM_001110792.2(MECP2):c.856A>G (p.Ser286Gly)
NM_001110792.2(MECP2):c.86_94del (p.Asp29_Gln31del)
NM_001110792.2(MECP2):c.871G>A (p.Ala291Thr)
NM_001110792.2(MECP2):c.871G>T (p.Ala291Ser)
NM_001110792.2(MECP2):c.875CCG[1] (p.Ala293del) rs1569548405
NM_001110792.2(MECP2):c.878C>G (p.Ala293Gly) rs2148662326
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001110792.2(MECP2):c.890A>C (p.Lys297Thr)
NM_001110792.2(MECP2):c.891G>C (p.Lys297Asn)
NM_001110792.2(MECP2):c.892A>C (p.Lys298Gln)
NM_001110792.2(MECP2):c.896C>A (p.Ala299Asp)
NM_001110792.2(MECP2):c.905A>G (p.Glu302Gly) rs2148662194
NM_001110792.2(MECP2):c.907_1268delinsAC (p.Ser303_Ser423delinsThr) rs2065909561
NM_001110792.2(MECP2):c.907_930del (p.Ser303_Glu310del)
NM_001110792.2(MECP2):c.91C>G (p.Gln31Glu) rs61754425
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.92A>C (p.Gln31Pro) rs2148667246
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.934G>C (p.Val312Leu)
NM_001110792.2(MECP2):c.934_942del (p.Val312_Pro314del) rs2065937019
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.93G>C (p.Gln31His) rs2148667234
NM_001110792.2(MECP2):c.944T>G (p.Ile315Ser) rs267608549
NM_001110792.2(MECP2):c.991G>A (p.Val331Met) rs1569548388
NM_001110792.2(MECP2):c.9C>T (p.Ala3=)

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