ClinVar Miner

List of variants in gene KAT6A reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.2226C>T (p.Asp742=) rs143212958 0.00039
NM_006766.5(KAT6A):c.5185A>T (p.Ile1729Leu) rs140560177 0.00015
NM_006766.5(KAT6A):c.2633G>A (p.Arg878His) rs139942484 0.00010
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys) rs374807145 0.00007
NM_006766.5(KAT6A):c.2672C>T (p.Thr891Met) rs575371774 0.00005
NM_006766.5(KAT6A):c.5921G>A (p.Gly1974Glu) rs374003917 0.00004
NM_006766.5(KAT6A):c.3989A>G (p.Lys1330Arg) rs746406926 0.00002
NM_006766.5(KAT6A):c.3299C>G (p.Ser1100Cys) rs758083988 0.00001
NM_006766.5(KAT6A):c.4210G>A (p.Glu1404Lys) rs1264062552 0.00001
NM_006766.5(KAT6A):c.4520G>T (p.Ser1507Ile) rs1216447981 0.00001
NM_006766.5(KAT6A):c.5299C>G (p.His1767Asp) rs1821629207 0.00001
NM_006766.5(KAT6A):c.1003A>G (p.Ile335Val)
NM_006766.5(KAT6A):c.1097G>A (p.Arg366Gln) rs1181854686
NM_006766.5(KAT6A):c.1210A>C (p.Lys404Gln)
NM_006766.5(KAT6A):c.121G>A (p.Gly41Ser)
NM_006766.5(KAT6A):c.127G>A (p.Asp43Asn)
NM_006766.5(KAT6A):c.1283G>A (p.Gly428Glu)
NM_006766.5(KAT6A):c.1346C>T (p.Thr449Ile)
NM_006766.5(KAT6A):c.142T>G (p.Leu48Val)
NM_006766.5(KAT6A):c.1475C>T (p.Ala492Val)
NM_006766.5(KAT6A):c.1483A>G (p.Lys495Glu)
NM_006766.5(KAT6A):c.1652C>G (p.Thr551Ser)
NM_006766.5(KAT6A):c.1681G>A (p.Gly561Ser)
NM_006766.5(KAT6A):c.1688T>A (p.Phe563Tyr)
NM_006766.5(KAT6A):c.1735T>A (p.Phe579Ile)
NM_006766.5(KAT6A):c.1862A>G (p.Asn621Ser)
NM_006766.5(KAT6A):c.2514G>T (p.Met838Ile)
NM_006766.5(KAT6A):c.2534G>A (p.Arg845His)
NM_006766.5(KAT6A):c.2604G>C (p.Trp868Cys)
NM_006766.5(KAT6A):c.2632C>T (p.Arg878Cys)
NM_006766.5(KAT6A):c.2764G>A (p.Ala922Thr)
NM_006766.5(KAT6A):c.2915G>C (p.Arg972Pro) rs376411038
NM_006766.5(KAT6A):c.2941C>T (p.Leu981Phe)
NM_006766.5(KAT6A):c.2948G>T (p.Gly983Val)
NM_006766.5(KAT6A):c.3272A>C (p.Gln1091Pro)
NM_006766.5(KAT6A):c.3353-4A>G rs762302738
NM_006766.5(KAT6A):c.3469A>G (p.Ser1157Gly)
NM_006766.5(KAT6A):c.389A>G (p.Asp130Gly)
NM_006766.5(KAT6A):c.4066A>G (p.Met1356Val)
NM_006766.5(KAT6A):c.4188C>G (p.His1396Gln) rs780955932
NM_006766.5(KAT6A):c.4223A>C (p.Glu1408Ala)
NM_006766.5(KAT6A):c.4235A>G (p.Glu1412Gly) rs1564004878
NM_006766.5(KAT6A):c.452T>C (p.Ile151Thr)
NM_006766.5(KAT6A):c.4594A>T (p.Met1532Leu) rs1476341397
NM_006766.5(KAT6A):c.4655A>C (p.Asp1552Ala)
NM_006766.5(KAT6A):c.4697C>G (p.Pro1566Arg) rs1821675856
NM_006766.5(KAT6A):c.4724G>T (p.Gly1575Val)
NM_006766.5(KAT6A):c.4775T>A (p.Leu1592Gln)
NM_006766.5(KAT6A):c.4776GTC[1] (p.Ser1597del) rs779024326
NM_006766.5(KAT6A):c.4882G>A (p.Ala1628Thr)
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_006766.5(KAT6A):c.5028_5039dup (p.Gln1684_Pro1685insGlnGlnProGln)
NM_006766.5(KAT6A):c.5068C>T (p.Pro1690Ser)
NM_006766.5(KAT6A):c.5330T>C (p.Val1777Ala)
NM_006766.5(KAT6A):c.5383G>A (p.Ala1795Thr)
NM_006766.5(KAT6A):c.545G>A (p.Cys182Tyr)
NM_006766.5(KAT6A):c.5596T>C (p.Ser1866Pro)
NM_006766.5(KAT6A):c.5693A>G (p.Asn1898Ser)
NM_006766.5(KAT6A):c.569C>T (p.Pro190Leu)
NM_006766.5(KAT6A):c.5764A>G (p.Met1922Val)
NM_006766.5(KAT6A):c.5771G>A (p.Ser1924Asn)
NM_006766.5(KAT6A):c.5810A>G (p.His1937Arg)
NM_006766.5(KAT6A):c.5866G>A (p.Gly1956Arg)
NM_006766.5(KAT6A):c.5984A>G (p.Gln1995Arg)
NM_006766.5(KAT6A):c.5995G>A (p.Gly1999Arg)

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