ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with dysmorphic facies and ptosis by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001003694.2(BRPF1):c.1313del (p.Val438fs)	rs2076997522
NM_001003694.2(BRPF1):c.1775dup (p.Arg593fs)	rs2125504267
NM_001003694.2(BRPF1):c.2311+1G>A	rs2077062359

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