List of variants studied for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by New York Genome Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys)	rs146209687	0.00006
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln)	rs200762586	0.00002
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu)	rs2150932891
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys)	rs745933378
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp)	rs1240578716

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