ClinVar Miner

List of variants reported as likely pathogenic for Rett syndrome by NeuroMeGen,Hospital Clinico Santiago de Compostela

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Total variants: 3
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HGVS dbSNP
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_004992.3(MECP2):c.1087_1088insC (p.Lys363fs) rs1557135929
NM_004992.3(MECP2):c.917G>A (p.Arg306His) rs61751443

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