ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.2007del (p.Leu669fs) rs1564013046
NM_006766.5(KAT6A):c.296G>A (p.Trp99Ter) rs1554702654
NM_006766.5(KAT6A):c.3039+1G>T rs1554681382
NM_006766.5(KAT6A):c.4085del (p.Lys1362fs) rs2150856458

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