List of variants reported as pathogenic for X-linked intellectual disability-hypotonia-movement disorder syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_001356.5(DDX3X):c.1448C>A (p.Ala483Asp)	rs2063923749
NM_001356.5(DDX3X):c.651_652del (p.Asp219fs)	rs2063876393
NM_001356.5(DDX3X):c.674A>G (p.Gln225Arg)	rs2063876594
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)	rs1555953488

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