ClinVar Miner

List of variants in gene KAT6A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.4988C>T (p.Pro1663Leu) rs755968563 0.00004
NM_006766.5(KAT6A):c.5339A>G (p.Tyr1780Cys) rs61753681 0.00003
NM_006766.5(KAT6A):c.107T>C (p.Val36Ala) rs367773799 0.00002
NM_006766.5(KAT6A):c.4058A>G (p.Asp1353Gly) rs764284203 0.00001
NM_006766.5(KAT6A):c.5630G>A (p.Arg1877His) rs1308362424 0.00001
NM_006766.5(KAT6A):c.1229T>C (p.Ile410Thr)
NM_006766.5(KAT6A):c.1343G>A (p.Ser448Asn)
NM_006766.5(KAT6A):c.1736T>G (p.Phe579Cys) rs2150867525
NM_006766.5(KAT6A):c.26A>G (p.Tyr9Cys) rs2150932978
NM_006766.5(KAT6A):c.2869G>C (p.Ala957Pro) rs374802138
NM_006766.5(KAT6A):c.3040-9_3040-8del rs1554680912
NM_006766.5(KAT6A):c.3086A>G (p.His1029Arg)
NM_006766.5(KAT6A):c.3412C>T (p.Leu1138Phe) rs1821769106
NM_006766.5(KAT6A):c.3485A>T (p.His1162Leu) rs1821764895
NM_006766.5(KAT6A):c.3739A>C (p.Ser1247Arg)
NM_006766.5(KAT6A):c.4420T>A (p.Cys1474Ser) rs1821692071
NM_006766.5(KAT6A):c.4688A>T (p.Tyr1563Phe) rs1821676544
NM_006766.5(KAT6A):c.5009C>A (p.Pro1670Gln) rs765421683
NM_006766.5(KAT6A):c.5270A>G (p.Gln1757Arg) rs1821630800
NM_006766.5(KAT6A):c.5600C>T (p.Ala1867Val)

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