ClinVar Miner

List of variants studied 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: 6
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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
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) rs1821677152
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) rs886037914

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