List of variants in gene KAT6A reported as pathogenic for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_006766.5(KAT6A):c.1900A>T (p.Lys634Ter)	rs1822469455
NM_006766.5(KAT6A):c.2127del (p.Lys709fs)	rs1822257059
NM_006766.5(KAT6A):c.214A>T (p.Lys72Ter)
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter)
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)	rs786200959
NM_006766.5(KAT6A):c.3286dup (p.Cys1096fs)	rs1821898026
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)	rs786200960
NM_006766.5(KAT6A):c.3395_3396del (p.Asp1132fs)	rs1821770366
NM_006766.5(KAT6A):c.3692del (p.Ala1231fs)	rs1821750171
NM_006766.5(KAT6A):c.3928C>T (p.Gln1310Ter)	rs777592513
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)	rs1554679889
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.442C>T (p.Arg148Ter)	rs759900272
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)	rs1395351821

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