ClinVar Miner

List of variants in gene MECP2 reported as pathogenic for History of neurodevelopmental disorder

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Total variants: 8
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HGVS dbSNP
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs) rs786205042
NM_004992.3(MECP2):c.316C>T (p.Arg106Trp) rs28934907
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.55C>T (p.Gln19Ter) rs61754425
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241

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