List of variants reported as pathogenic for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects 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_006766.5(KAT6A):c.1663del (p.Gln555fs)	rs1822554467
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)	rs1587723169
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter)	rs768856558
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)	rs786200960

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