ClinVar Miner

List of variants reported as pathogenic for Cohen syndrome 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_152564.5(VPS13B):c.1418del (p.Ser473fs)
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs) rs1813589674
NM_152564.5(VPS13B):c.8995-2A>G rs1554569259

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