ClinVar Miner

List of variants in gene KAT6A reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1280G>T (p.Arg427Leu) rs1131691878
NM_006766.5(KAT6A):c.2437-3C>G rs1057524340
NM_006766.5(KAT6A):c.3039+1del rs1554681385
NM_006766.5(KAT6A):c.3184G>T (p.Glu1062Ter) rs1554680840
NM_006766.5(KAT6A):c.3212A>C (p.Glu1071Ala) rs1131691516
NM_006766.5(KAT6A):c.4037del (p.Gly1346fs) rs1587709269
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) rs1564005155
NM_006766.5(KAT6A):c.4399C>T (p.Gln1467Ter) rs1064795648
NM_006766.5(KAT6A):c.4819C>T (p.Gln1607Ter) rs1554679654
NM_006766.5(KAT6A):c.5248_5257del (p.Ala1749_Thr1750insTer) rs1554679415
NM_006766.5(KAT6A):c.5645_5646delinsGCTGGCCGTA (p.Val1882fs) rs1587705905

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