ClinVar Miner

List of variants studied for Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome by Baylor Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.2791G>A (p.Gly931Arg) rs779101695 0.00004
NM_006766.5(KAT6A):c.2989C>T (p.Pro997Ser) rs1044282559 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) rs1661324893
NM_006766.5(KAT6A):c.2947G>T (p.Gly983Cys) rs1822089938
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3629C>A (p.Thr1210Asn)
NM_006766.5(KAT6A):c.3778A>G (p.Ser1260Gly) rs774544767
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4445C>T (p.Pro1482Leu) rs1821690064
NM_006766.5(KAT6A):c.4598T>C (p.Met1533Thr) rs1821679735
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4960C>A (p.Pro1654Thr) rs1264564304
NM_006766.5(KAT6A):c.5207C>T (p.Pro1736Leu) rs867327550
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.5575T>A (p.Ser1859Thr)
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721

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