ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

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Total variants: 9
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HGVS dbSNP
NM_004992.3(MECP2):c.1308_1309del (p.Gln437fs) rs61753972
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
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.502C>T (p.Arg168Ter) rs61748421
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004992.3(MECP2):c.806del (p.Gly269fs) rs61750241
NM_004992.3(MECP2):c.916C>T (p.Arg306Cys) rs28935468

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