ClinVar Miner

List of variants in gene KAT6A reported as likely benign 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: 16
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00424
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_006766.5(KAT6A):c.1185T>G (p.Asp395Glu) rs111806051 0.00036
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00014
NM_006766.5(KAT6A):c.5572C>T (p.Arg1858Cys) rs374807145 0.00007
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_006766.5(KAT6A):c.2710G>A (p.Glu904Lys) rs755856755 0.00004
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly) rs900174205 0.00001
NM_006766.5(KAT6A):c.1662G>T (p.Gln554His) rs1822554678
NM_006766.5(KAT6A):c.5027A>C (p.Gln1676Pro) rs1169193672
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1]) rs548231613
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) rs886037914
NM_006766.5(KAT6A):c.5600C>G (p.Ala1867Gly)
NM_006766.5(KAT6A):c.5668G>A (p.Ala1890Thr) rs766320012

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