ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for not provided

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Gene type:
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Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001110792.2(MECP2):c.*1368C>A rs267608355 0.00050
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
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.1410C>T (p.Arg470=) rs781825661 0.00004
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1364C>T (p.Ala455Val) rs375101073 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.307C>T (p.Arg103Trp) rs782320257 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.656T>C (p.Val219Ala) rs868943420 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
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.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.587C>G (p.Thr196Ser) rs782419414 0.00002
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys) rs587783137 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001110792.2(MECP2):c.1018C>G (p.Leu340Val) rs267608556 0.00001
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) rs1557136001 0.00001
NM_001110792.2(MECP2):c.1161C>T (p.Ser387=) rs782221170 0.00001
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) rs971722789 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) rs782598922 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.598C>T (p.Arg200Trp) rs782467549 0.00001
NM_001110792.2(MECP2):c.633C>G (p.Pro211=) rs782619288 0.00001
NM_001110792.2(MECP2):c.664A>G (p.Lys222Glu) rs782716294 0.00001
NM_001110792.2(MECP2):c.68A>G (p.Glu23Gly) rs782735472 0.00001
NM_001110792.2(MECP2):c.723G>T (p.Ser241=) rs782461567 0.00001
NM_001110792.2(MECP2):c.860T>C (p.Val287Ala) rs143989769 0.00001
NM_001110792.2(MECP2):c.920C>A (p.Ser307Tyr) rs1327387670 0.00001
GRCh37/hg19 Xq28(chrX:153303159-153383470)x3
GRCh37/hg19 Xq28(chrX:153347338-153408903)x2
NM_001110792.2(MECP2):c.*9G>T rs144008995
NM_001110792.2(MECP2):c.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1016C>T (p.Thr339Ile)
NM_001110792.2(MECP2):c.1033G>A (p.Gly345Arg)
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.105C>G (p.Asp35Glu)
NM_001110792.2(MECP2):c.1081_1131del (p.Ser361_Glu377del)
NM_001110792.2(MECP2):c.1085G>A (p.Ser362Asn) rs1557136008
NM_001110792.2(MECP2):c.109C>T (p.Pro37Ser) rs1275570991
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) rs61752373
NM_001110792.2(MECP2):c.1120C>T (p.Pro374Ser) rs782171742
NM_001110792.2(MECP2):c.1123AAG[1] (p.Lys376del) rs1305887312
NM_001110792.2(MECP2):c.1124A>C (p.Lys375Thr) rs1057520135
NM_001110792.2(MECP2):c.1132C>T (p.His378Tyr) rs2065928374
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.1151_1154delinsCCCA (p.His384_Ser385delinsProGln) rs2148660984
NM_001110792.2(MECP2):c.1168G>T (p.Ala390Ser) rs587783106
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly) rs201314910
NM_001110792.2(MECP2):c.1174_1191del (p.Val392_Pro397del)
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del) rs587783094
NM_001110792.2(MECP2):c.1193_1230del (p.Leu398fs) rs2148659886
NM_001110792.2(MECP2):c.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr) rs1557135722
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1198_1224del (p.Pro400_Ser408del) rs782783878
NM_001110792.2(MECP2):c.1199_1203delinsTC (p.Pro400_Pro401delinsLeu)
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
NM_001110792.2(MECP2):c.1212G>C (p.Glu404Asp) rs61753009
NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) rs782746707
NM_001110792.2(MECP2):c.1218G>C (p.Glu406Asp)
NM_001110792.2(MECP2):c.1219A>G (p.Ser407Gly) rs1603307813
NM_001110792.2(MECP2):c.1241C>G (p.Pro414Arg) rs61753014
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) rs782495086
NM_001110792.2(MECP2):c.1243C>T (p.Pro415Ser)
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1261AGC[2] (p.Ser423del) rs2065909462
NM_001110792.2(MECP2):c.126G>A (p.Lys42=) rs398124187
NM_001110792.2(MECP2):c.1284G>C (p.Glu428Asp) rs1603307532
NM_001110792.2(MECP2):c.1289T>C (p.Met430Thr) rs1210814372
NM_001110792.2(MECP2):c.1313G>A (p.Ser438Asn) rs2148659072
NM_001110792.2(MECP2):c.1315G>T (p.Asp439Tyr)
NM_001110792.2(MECP2):c.1337C>G (p.Ala446Gly) rs2148658933
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1369A>G (p.Thr457Ala) rs2065904640
NM_001110792.2(MECP2):c.1382A>G (p.Lys461Arg)
NM_001110792.2(MECP2):c.1397G>C (p.Gly466Ala) rs1557134990
NM_001110792.2(MECP2):c.1412A>G (p.Lys471Arg) rs1557134964
NM_001110792.2(MECP2):c.1445A>T (p.Asn482Ile) rs1270065515
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.1450GAG[3] (p.Glu485_Pro486insGlu)
NM_001110792.2(MECP2):c.1455G>C (p.Glu485Asp) rs75498268
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910
NM_001110792.2(MECP2):c.244T>C (p.Ser82Pro) rs1557137884
NM_001110792.2(MECP2):c.248C>T (p.Ala83Val)
NM_001110792.2(MECP2):c.26C>G (p.Pro9Arg)
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser) rs1557137845
NM_001110792.2(MECP2):c.275C>G (p.Ser92Cys) rs1332969540
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
NM_001110792.2(MECP2):c.286C>T (p.Arg96Trp) rs1557137821
NM_001110792.2(MECP2):c.287G>A (p.Arg96Gln) rs797044707
NM_001110792.2(MECP2):c.385_388delinsTCCT (p.Ala129_Gly130delinsSerTrp) rs2148666395
NM_001110792.2(MECP2):c.412A>G (p.Asn138Asp) rs1064796513
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.414-10G>T rs1557137196
NM_001110792.2(MECP2):c.414-11T>A
NM_001110792.2(MECP2):c.414-4del rs1557137191
NM_001110792.2(MECP2):c.423A>G (p.Gly141=) rs1557137159
NM_001110792.2(MECP2):c.449T>C (p.Leu150Ser) rs267608475
NM_001110792.2(MECP2):c.462C>G (p.Phe154Leu) rs61748397
NM_001110792.2(MECP2):c.47_49dup (p.Gly16dup) rs1569549906
NM_001110792.2(MECP2):c.484C>G (p.Leu162Val)
NM_001110792.2(MECP2):c.539G>C (p.Arg180Pro)
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.557A>C (p.Lys186Thr) rs782700352
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.571C>G (p.Pro191Ala) rs1362774583
NM_001110792.2(MECP2):c.572C>T (p.Pro191Leu)
NM_001110792.2(MECP2):c.577G>T (p.Ala193Ser) rs2148663753
NM_001110792.2(MECP2):c.578C>G (p.Ala193Gly)
NM_001110792.2(MECP2):c.57G>C (p.Glu19Asp) rs587783133
NM_001110792.2(MECP2):c.589G>A (p.Gly197Ser) rs587783135
NM_001110792.2(MECP2):c.599G>A (p.Arg200Gln)
NM_001110792.2(MECP2):c.63-3C>G
NM_001110792.2(MECP2):c.635A>C (p.Lys212Thr) rs2148663508
NM_001110792.2(MECP2):c.671T>A (p.Val224Asp) rs2065950854
NM_001110792.2(MECP2):c.679A>C (p.Lys227Gln) rs377324117
NM_001110792.2(MECP2):c.685C>T (p.Pro229Ser) rs786205894
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr) rs1209806388
NM_001110792.2(MECP2):c.728G>C (p.Gly243Ala)
NM_001110792.2(MECP2):c.732C>T (p.Gly244=) rs2065947928
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001110792.2(MECP2):c.76G>A (p.Glu26Lys) rs2065991940
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>A (p.Ala269Asp)
NM_001110792.2(MECP2):c.818C>G (p.Pro273Arg)
NM_001110792.2(MECP2):c.818C>T (p.Pro273Leu)
NM_001110792.2(MECP2):c.824C>G (p.Ala275Gly) rs782576004
NM_001110792.2(MECP2):c.866C>T (p.Ala289Val) rs1569548411
NM_001110792.2(MECP2):c.869C>T (p.Ala290Val) rs781971438
NM_001110792.2(MECP2):c.884C>A (p.Ala295Asp) rs1186486711
NM_001110792.2(MECP2):c.88C>T (p.Leu30Phe) rs2065991510
NM_001110792.2(MECP2):c.920C>G (p.Ser307Cys) rs1327387670
NM_001110792.2(MECP2):c.932C>T (p.Thr311Ile)
NM_001110792.2(MECP2):c.937C>T (p.Leu313Phe) rs1557136251
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser) rs1557136171
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001110792.2(MECP2):c.989A>C (p.Glu330Ala) rs61751448

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