List of variants reported as pathogenic for Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 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_001080517.3(SETD5):c.1744_1745del (p.Ser582fs)	rs2042128326
NM_001080517.3(SETD5):c.2386dup (p.Thr796fs)	rs2042902664
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)	rs2045524028
NM_001080517.3(SETD5):c.345dup (p.Lys116fs)	rs2040365404

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