ClinVar Miner

List of variants in gene MECP2 reported as pathogenic by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Gene type:
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Total variants: 3
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HGVS dbSNP
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs) rs267608327
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_004992.3(MECP2):c.27-6C>G rs267608411

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