ClinVar Miner

List of variants in gene MECP2 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927 0.00256
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001110792.2(MECP2):c.644C>T (p.Thr215Met) rs61749720 0.00070
NM_001110792.2(MECP2):c.*371G>C rs187851059 0.00062
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.870C>T (p.Ala290=) rs61750248 0.00041
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001110792.2(MECP2):c.*5348T>C rs267608346 0.00025
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.876C>T (p.Ala292=) rs61750251 0.00022
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001110792.2(MECP2):c.462C>T (p.Phe154=) rs61748397 0.00020
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_001110792.2(MECP2):c.429C>G (p.Ala143=) rs61748385 0.00018
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001110792.2(MECP2):c.1303T>C (p.Ser435Pro) rs782243032 0.00015
NM_001110792.2(MECP2):c.1409G>A (p.Arg470His) rs185957513 0.00015
NM_001110792.2(MECP2):c.897C>T (p.Ala299=) rs139378224 0.00013
NM_001110792.2(MECP2):c.171C>T (p.Pro57=) rs139477857 0.00012
NM_001110792.2(MECP2):c.669G>C (p.Arg223Ser) rs61749731 0.00012
NM_001110792.2(MECP2):c.204C>T (p.Pro68=) rs61754435 0.00010
NM_001110792.2(MECP2):c.*806G>A rs267608363 0.00009
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.1107C>T (p.Ser369=) rs61750236 0.00006
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.1232C>T (p.Pro411Leu) rs62915962 0.00005
NM_001110792.2(MECP2):c.1353G>A (p.Ala451=) rs146632223 0.00005
NM_001110792.2(MECP2):c.510G>A (p.Thr170=) rs61748413 0.00005
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.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.1191C>T (p.Pro397=) rs370226935 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.1487G>C (p.Arg496Thr) rs267608370 0.00002
NM_001110792.2(MECP2):c.281A>G (p.Lys94Arg) rs61754444 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) rs61749722 0.00002
NM_001110792.2(MECP2):c.1086C>T (p.Ser362=) rs1557136001 0.00001
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=) rs782751264 0.00001
NM_001110792.2(MECP2):c.1172C>T (p.Pro391Leu) rs971722789 0.00001
NM_001110792.2(MECP2):c.1248G>A (p.Glu416=) rs782585521 0.00001
NM_001110792.2(MECP2):c.1271T>C (p.Val424Ala) rs782598922 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1482C>T (p.Thr494=) rs76895094 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.753C>T (p.Ala251=) rs1057520963 0.00001
NM_001110792.2(MECP2):c.759A>G (p.Thr253=) rs1416619132 0.00001
NM_001110792.2(MECP2):c.840G>A (p.Arg280=) rs2065942686 0.00001
NM_001110792.2(MECP2):c.*1109T>C
NM_001110792.2(MECP2):c.*2706G>A rs267608357
NM_001110792.2(MECP2):c.*772G>A
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.1006C>G (p.Leu336Val) rs2065934195
NM_001110792.2(MECP2):c.1016C>T (p.Thr339Ile)
NM_001110792.2(MECP2):c.1041_1168del (p.Leu348fs)
NM_001110792.2(MECP2):c.1092_1165del (p.Arg366fs)
NM_001110792.2(MECP2):c.1117C>A (p.Pro373Thr) rs61752373
NM_001110792.2(MECP2):c.1134CCA[4] (p.His384dup) rs61752381
NM_001110792.2(MECP2):c.1143_1237del (p.His381fs) rs2148659692
NM_001110792.2(MECP2):c.1168_1169insT (p.Ala390fs) rs2065925648
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1171_1199del (p.Pro391fs)
NM_001110792.2(MECP2):c.1191_1236del (p.Leu398fs) rs267608329
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.1195C>T (p.Pro399Ser) rs1171658384
NM_001110792.2(MECP2):c.1198_1208del (p.Pro399_Pro400insTer) rs2065919863
NM_001110792.2(MECP2):c.1198_1215del (p.Pro400_Pro405del) rs267608406
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001110792.2(MECP2):c.1207C>A (p.Pro403Thr) rs781794820
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>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.1243C>G (p.Pro415Ala) rs782495086
NM_001110792.2(MECP2):c.1244del (p.Pro415fs) rs781843758
NM_001110792.2(MECP2):c.1250_1263del (p.Pro417fs) rs1557135208
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1282G>T (p.Glu428Ter) rs1057519216
NM_001110792.2(MECP2):c.1304_1317del (p.Ser435fs) rs2065907079
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.1397G>C (p.Gly466Ala) rs1557134990
NM_001110792.2(MECP2):c.275C>T (p.Ser92Phe)
NM_001110792.2(MECP2):c.334C>G (p.Leu112Val) rs28935168
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.423A>G (p.Gly141=) rs1557137159
NM_001110792.2(MECP2):c.433C>A (p.Arg145Ser) rs28934904
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val) rs28934908
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr) rs1557137042
NM_001110792.2(MECP2):c.488A>T (p.Asp163Val)
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
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.62+2_62+3del rs786205049
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.710C>G (p.Pro237Arg) rs61749715
NM_001110792.2(MECP2):c.747T>G (p.Gly249=)
NM_001110792.2(MECP2):c.784C>T (p.Arg262Cys) rs141382970
NM_001110792.2(MECP2):c.786C>T (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs) rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.866C>T (p.Ala289Val) rs1569548411
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444

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