ClinVar Miner

List of variants in gene KAT6A studied for autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

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Total variants: 18
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HGVS dbSNP
KAT6A, ASN643SER
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) rs1554680245
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs) rs1554680188
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) rs1564005155
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) rs1057516049
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer) rs1554679726
NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg) rs886037914
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr)
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997
NM_006766.5(KAT6A):c.907+1del rs1564038389

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