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	gnomAD frequency
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs)	rs1557135929
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)	rs61751443
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)	rs1554504681

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