ClinVar Miner

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

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Total variants: 20
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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_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.1147C>T (p.Leu383Phe) rs1340029095
NM_004992.3(MECP2):c.1151C>T (p.Pro384Leu) rs193922676
NM_004992.3(MECP2):c.1159delinsAGCCCACCTCCCA (p.Pro387delinsSerProProProThr) rs1557135722
NM_004992.3(MECP2):c.1214C>T (p.Pro405Leu) rs61753016
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
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.492C>T (p.Ser164=) rs1557136964
NM_004992.3(MECP2):c.533C>G (p.Ser178Cys) rs782314807
NM_004992.3(MECP2):c.678T>G (p.Phe226Leu) rs878853313
NM_004992.3(MECP2):c.716C>A (p.Ala239Asp) rs1557136591
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.923C>G (p.Thr308Ser) rs1557136171
NM_004992.3(MECP2):c.981C>T (p.Thr327=) rs1015722593

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