ClinVar Miner

List of variants in gene KAT6A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00424
NM_006766.5(KAT6A):c.1477C>T (p.Leu493=) rs61753684 0.00201
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_006766.5(KAT6A):c.5994C>T (p.Asn1998=) rs117270099 0.00124
NM_006766.5(KAT6A):c.336G>C (p.Glu112Asp) rs138399992 0.00121
NM_006766.5(KAT6A):c.1134A>G (p.Ser378=) rs147952562 0.00081
NM_006766.5(KAT6A):c.5526G>A (p.Thr1842=) rs146496080 0.00081
NM_006766.5(KAT6A):c.4956A>G (p.Pro1652=) rs201475966 0.00046
NM_006766.5(KAT6A):c.2533C>T (p.Arg845Cys) rs145797427 0.00024
NM_006766.5(KAT6A):c.4779G>A (p.Ser1593=) rs149912064 0.00022
NM_006766.5(KAT6A):c.1157G>A (p.Arg386Gln) rs140780968 0.00020
NM_006766.5(KAT6A):c.5730T>C (p.Asn1910=) rs144084994 0.00017
NM_006766.5(KAT6A):c.5597C>G (p.Ser1866Cys) rs181712540 0.00014
NM_006766.5(KAT6A):c.603G>A (p.Pro201=) rs148925079 0.00014
NM_006766.5(KAT6A):c.5740A>G (p.Met1914Val) rs750315709 0.00010
NM_006766.5(KAT6A):c.4560C>T (p.Ser1520=) rs370577877 0.00007
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_006766.5(KAT6A):c.4150G>A (p.Val1384Met) rs752818339 0.00003
NM_006766.5(KAT6A):c.4512C>T (p.Ala1504=) rs375447531 0.00002
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_006766.5(KAT6A):c.3299C>G (p.Ser1100Cys) rs758083988 0.00001
NM_006766.5(KAT6A):c.1131A>G (p.Ser377=)
NM_006766.5(KAT6A):c.1997-6C>T rs1564013075
NM_006766.5(KAT6A):c.279T>C (p.Asn93=)
NM_006766.5(KAT6A):c.2864C>T (p.Pro955Leu) rs761588463
NM_006766.5(KAT6A):c.2914C>T (p.Arg972Cys)
NM_006766.5(KAT6A):c.2978A>C (p.Glu993Ala)
NM_006766.5(KAT6A):c.3202G>A (p.Asp1068Asn) rs187168141
NM_006766.5(KAT6A):c.3661G>A (p.Glu1221Lys)
NM_006766.5(KAT6A):c.3859GAG[2] (p.Glu1289del) rs747034971
NM_006766.5(KAT6A):c.3915T>C (p.Ala1305=)
NM_006766.5(KAT6A):c.4644C>T (p.Ser1548=)
NM_006766.5(KAT6A):c.4746T>G (p.Ser1582=)
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5313T>C (p.Tyr1771=)
NM_006766.5(KAT6A):c.5406G>T (p.Gly1802=)

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