ClinVar Miner

List of variants in gene MECP2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 5
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HGVS dbSNP
NM_001110792.1(MECP2):c.52G>A (p.Glu18Lys) rs1234894476
NM_004992.3(MECP2):c.1178C>T (p.Pro393Leu) rs267608402
NM_004992.3(MECP2):c.1447G>A (p.Glu483Lys) rs587777421
NM_004992.3(MECP2):c.784C>G (p.Gln262Glu) rs267608525
NM_004992.3(MECP2):c.872C>G (p.Ser291Cys) rs1326849768

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