ClinVar Miner

List of variants in gene MECP2 reported by Integrated Genetics/Laboratory Corporation of America

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Gene type:
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Total variants: 60
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HGVS dbSNP
NM_001110792.2(MECP2):c.13G>A (p.Ala5Thr) rs1240023402
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) rs1234894476
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_004992.3(MECP2):c.1072G>A (p.Ala358Thr) rs147017239
NM_004992.3(MECP2):c.1075T>C (p.Ser359Pro) rs61752371
NM_004992.3(MECP2):c.1079C>A (p.Ser360Ter) rs61752372
NM_004992.3(MECP2):c.1115A>C (p.His372Pro) rs782019867
NM_004992.3(MECP2):c.1117T>C (p.Ser373Pro) rs782420258
NM_004992.3(MECP2):c.1118C>A (p.Ser373Ter) rs267608569
NM_004992.3(MECP2):c.1137C>T (p.Pro379=) rs61752980
NM_004992.3(MECP2):c.1138G>A (p.Val380Met) rs267608572
NM_004992.3(MECP2):c.1140G>A (p.Val380=) rs201711454
NM_004992.3(MECP2):c.1147C>T (p.Leu383Phe) rs1340029095
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1157_1197del (p.Leu386fs) rs267608327
NM_004992.3(MECP2):c.1159delinsAGCCCACCTCCCA (p.Pro387delinsSerProProProThr) rs1557135722
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1161C>T (p.Pro387=) rs61750246
NM_004992.3(MECP2):c.1180G>A (p.Glu394Lys) rs63094662
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1233C>T (p.Ser411=) rs3027928
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.1441G>A (p.Val481Met) rs193922678
NM_004992.3(MECP2):c.235G>T (p.Ala79Ser) rs1557137845
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.378-20C>G rs368684221
NM_004992.3(MECP2):c.378-3C>G rs267608465
NM_004992.3(MECP2):c.378-6C>G rs782482746
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.423C>G (p.Tyr141Ter) rs61748396
NM_004992.3(MECP2):c.455C>G (p.Pro152Arg) rs61748404
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.492C>T (p.Ser164=) rs1557136964
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.527C>G (p.Pro176Arg) rs61749701
NM_004992.3(MECP2):c.533C>G (p.Ser178Cys) rs782314807
NM_004992.3(MECP2):c.574A>T (p.Lys192Ter) rs193922679
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.650C>T (p.Pro217Leu) rs878853312
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.710del (p.Gly237fs) rs61749743
NM_004992.3(MECP2):c.716C>A (p.Ala239Asp) rs1557136591
NM_004992.3(MECP2):c.728_731del (p.Thr243fs) rs1569548428
NM_004992.3(MECP2):c.72A>G (p.Lys24=) rs782202329
NM_004992.3(MECP2):c.735C>G (p.Val245=) rs782027467
NM_004992.3(MECP2):c.753dup (p.Gly252fs) rs61749751
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.777C>T (p.Ala259=) rs1042870
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.819G>T (p.Gly273=) rs61750245
NM_004992.3(MECP2):c.834C>T (p.Ala278=) rs61750248
NM_004992.3(MECP2):c.841G>A (p.Ala281Thr) rs782239416
NM_004992.3(MECP2):c.898G>A (p.Val300Ile) rs61751370
NM_004992.3(MECP2):c.909C>G (p.Ile303Met) rs61751439
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468
NM_004992.3(MECP2):c.923C>G (p.Thr308Ser) rs1557136171
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_004992.3(MECP2):c.981C>T (p.Thr327=) rs1015722593

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