ClinVar Miner

List of variants reported as likely pathogenic for Snijders Blok-Campeau syndrome by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs)	rs967826828	0.00001
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp)	rs1064795892

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