ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001110792.2(MECP2):c.1250C>T (p.Pro417Leu) rs61753016 0.00004
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) rs587783138 0.00003
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro) rs782019867 0.00002
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) rs782420258 0.00002
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter) rs267608569 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) rs1234894476 0.00002
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) rs2148661261
NM_001110792.2(MECP2):c.1195delinsAGCCCACCTCCCA (p.Pro399delinsSerProProProThr) rs1557135722
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
NM_001110792.2(MECP2):c.271G>T (p.Ala91Ser) rs1557137845
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.62+5439T>C rs2148763055
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu) rs2065951467
NM_001110792.2(MECP2):c.714T>G (p.Phe238Leu) rs878853313
NM_001110792.2(MECP2):c.752C>A (p.Ala251Asp) rs1557136591
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile) rs61751370
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.959C>G (p.Thr320Ser) rs1557136171

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