ClinVar Miner

List of variants in gene MECP2 reported as likely benign by GeneDx

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Gene type:
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Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.62+5140A>G rs191208644 0.01268
NM_001110792.2(MECP2):c.413+242C>T rs138803341 0.00779
NM_001110792.2(MECP2):c.312A>G (p.Gly104=) rs140191561 0.00035
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_001110792.2(MECP2):c.1242C>T (p.Pro414=) rs63586860 0.00019
NM_001110792.2(MECP2):c.722C>T (p.Ser241Leu) rs61749739 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.*13C>T rs782334844 0.00013
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001110792.2(MECP2):c.1318G>A (p.Gly440Ser) rs61753971 0.00011
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 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.653G>C (p.Gly218Ala) rs63485860 0.00009
NM_001110792.2(MECP2):c.756C>T (p.Thr252=) rs61749746 0.00009
NM_001110792.2(MECP2):c.851C>T (p.Pro284Leu) rs61750243 0.00009
NM_001110792.2(MECP2):c.1473G>A (p.Thr491=) rs587781033 0.00008
NM_001110792.2(MECP2):c.642C>T (p.Ala214=) rs782254448 0.00008
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00007
NM_001110792.2(MECP2):c.1251C>T (p.Pro417=) rs61753964 0.00007
NM_001110792.2(MECP2):c.1066C>T (p.Arg356Trp) rs61752361 0.00006
NM_001110792.2(MECP2):c.1171C>T (p.Pro391Ser) rs782050077 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.90C>G (p.Leu30=) rs372500343 0.00006
NM_001110792.2(MECP2):c.1199C>T (p.Pro400Leu) rs61753006 0.00005
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.456G>A (p.Ala152=) rs782082759 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001110792.2(MECP2):c.696C>T (p.Leu232=) rs267608512 0.00005
NM_001110792.2(MECP2):c.1190C>A (p.Pro397His) rs111302745 0.00004
NM_001110792.2(MECP2):c.1244C>T (p.Pro415Leu) rs587783107 0.00004
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp) rs61750239 0.00004
NM_001110792.2(MECP2):c.877G>A (p.Ala293Thr) rs782239416 0.00004
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met) rs587783140 0.00004
NM_001110792.2(MECP2):c.*1C>G rs781782964 0.00003
NM_001110792.2(MECP2):c.1230C>T (p.Asp410=) rs782741920 0.00003
NM_001110792.2(MECP2):c.1291C>T (p.Pro431Ser) rs140258520 0.00003
NM_001110792.2(MECP2):c.1314C>T (p.Ser438=) rs267608619 0.00003
NM_001110792.2(MECP2):c.1352C>T (p.Ala451Val) rs782805738 0.00003
NM_001110792.2(MECP2):c.1374C>T (p.Ala458=) rs782496297 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.172G>A (p.Val58Met) rs587783134 0.00003
NM_001110792.2(MECP2):c.261G>A (p.Pro87=) rs61754442 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
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.1239C>T (p.Ser413=) rs782230851 0.00002
NM_001110792.2(MECP2):c.413+18C>G rs267608461 0.00002
NM_001110792.2(MECP2):c.414-6C>G rs782482746 0.00002
NM_001110792.2(MECP2):c.414T>C (p.Asn138=) rs782035249 0.00002
NM_001110792.2(MECP2):c.553C>G (p.Pro185Ala) rs61748427 0.00002
NM_001110792.2(MECP2):c.62+20C>G rs781969166 0.00002
NM_001110792.2(MECP2):c.632C>G (p.Pro211Arg) rs267608502 0.00002
NM_001110792.2(MECP2):c.895G>C (p.Ala299Pro) rs61750257 0.00002
NM_001110792.2(MECP2):c.918A>G (p.Arg306=) rs782744332 0.00002
NM_001110792.2(MECP2):c.*16A>G rs1057520854 0.00001
NM_001110792.2(MECP2):c.*4T>C rs782579028 0.00001
NM_001110792.2(MECP2):c.1089C>G (p.Pro363=) rs782242577 0.00001
NM_001110792.2(MECP2):c.1098C>T (p.Arg366=) rs782228941 0.00001
NM_001110792.2(MECP2):c.1170C>T (p.Ala390=) rs782751264 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1195C>A (p.Pro399Thr) rs1171658384 0.00001
NM_001110792.2(MECP2):c.1235C>T (p.Thr412Ile) rs782420809 0.00001
NM_001110792.2(MECP2):c.1240C>A (p.Pro414Thr) rs150146088 0.00001
NM_001110792.2(MECP2):c.1275C>T (p.Cys425=) rs61753967 0.00001
NM_001110792.2(MECP2):c.1320C>T (p.Gly440=) rs267608621 0.00001
NM_001110792.2(MECP2):c.1368C>T (p.Ala456=) rs1204809030 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.301C>T (p.Arg101Cys) rs782601477 0.00001
NM_001110792.2(MECP2):c.44G>A (p.Gly15Glu) rs1333935838 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001110792.2(MECP2):c.552A>G (p.Pro184=) rs1169814545 0.00001
NM_001110792.2(MECP2):c.55G>A (p.Glu19Lys) rs782789719 0.00001
NM_001110792.2(MECP2):c.62+5300C>G rs782519280 0.00001
NM_001110792.2(MECP2):c.763A>G (p.Thr255Ala) rs782145652 0.00001
NM_001110792.2(MECP2):c.831C>G (p.Pro277=) rs267608527 0.00001
NM_001110792.2(MECP2):c.846A>G (p.Arg282=) rs782743949 0.00001
NM_001110792.2(MECP2):c.917G>A (p.Arg306Gln) rs61751366 0.00001
NM_001110792.2(MECP2):c.1014C>T (p.Ser338=) rs374670136
NM_001110792.2(MECP2):c.1065G>C (p.Gly355=) rs1057522816
NM_001110792.2(MECP2):c.1077G>A (p.Lys359=) rs1043854626
NM_001110792.2(MECP2):c.1091A>G (p.Lys364Arg) rs2148661393
NM_001110792.2(MECP2):c.1117C>T (p.Pro373Ser) rs61752373
NM_001110792.2(MECP2):c.1134C>T (p.His378=) rs1557135898
NM_001110792.2(MECP2):c.1134CCA[1] (p.His383_His384del) rs61752381
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.1169C>T (p.Ala390Val) rs201314910
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del) rs782767712
NM_001110792.2(MECP2):c.1191_1202del (p.Leu398_Pro401del) rs782174572
NM_001110792.2(MECP2):c.1197_1199del (p.Pro403del) rs267608339
NM_001110792.2(MECP2):c.1197_1202del (p.Pro402_Pro403del) rs267608332
NM_001110792.2(MECP2):c.1198C>G (p.Pro400Ala) rs61753000
NM_001110792.2(MECP2):c.1207C>G (p.Pro403Ala) rs781794820
NM_001110792.2(MECP2):c.1215C>T (p.Pro405=) rs781898011
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg) rs587783107
NM_001110792.2(MECP2):c.1255G>A (p.Asp419Asn) rs2065910235
NM_001110792.2(MECP2):c.1271T>G (p.Val424Gly) rs782598922
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg) rs797045692
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met) rs61753968
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr) rs1057520310
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910
NM_001110792.2(MECP2):c.192C>G (p.His64Gln) rs781819534
NM_001110792.2(MECP2):c.33AGG[4] (p.Gly16del) rs587783744
NM_001110792.2(MECP2):c.33AGG[7] (p.Gly15_Gly16dup) rs587783744
NM_001110792.2(MECP2):c.413+6_413+9del rs267608459
NM_001110792.2(MECP2):c.44_49dup (p.Gly15_Gly16dup) rs1064795312
NM_001110792.2(MECP2):c.562C>T (p.Pro188Ser) rs186663314
NM_001110792.2(MECP2):c.62+20C>A rs781969166
NM_001110792.2(MECP2):c.62+5488dup rs372915987
NM_001110792.2(MECP2):c.641C>T (p.Ala214Val) rs587783138
NM_001110792.2(MECP2):c.673C>G (p.Leu225Val) rs782473355
NM_001110792.2(MECP2):c.697C>G (p.Leu233Val) rs782357529
NM_001110792.2(MECP2):c.741G>A (p.Glu247=) rs2148663015
NM_001110792.2(MECP2):c.753C>A (p.Ala251=) rs1057520963
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.786C>A (p.Arg262=) rs61748424
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188

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