ClinVar Miner

List of variants in gene KAT6A reported as likely pathogenic for developmental disorder of mental health

Included ClinVar conditions (728):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser) rs1822869930
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter) rs1211232252
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs) rs2150856658
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs) rs1821721248
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn) rs1821677301
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe) rs1821677152
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs) rs2150855326
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879

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