ClinVar Miner

List of variants in gene KAT6A reported as pathogenic by GeneDx

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1085_1089dup (p.Arg364fs) rs1554688570
NM_006766.5(KAT6A):c.1096C>T (p.Arg366Ter) rs1564034820
NM_006766.5(KAT6A):c.1176del (p.Cys393fs) rs1554688473
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.1473_1476dup (p.Leu493fs) rs1587767856
NM_006766.5(KAT6A):c.1536dup (p.Glu513Ter) rs886041809
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter) rs1554680902
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3182T>G (p.Leu1061Ter) rs886041825
NM_006766.5(KAT6A):c.3230del (p.Asn1077fs) rs2150858815
NM_006766.5(KAT6A):c.3348_3349dup (p.Asp1117fs)
NM_006766.5(KAT6A):c.3353-1G>A rs1351334408
NM_006766.5(KAT6A):c.3353-3_3353dup rs1554680316
NM_006766.5(KAT6A):c.3412del (p.Glu1139fs) rs1554680267
NM_006766.5(KAT6A):c.3432dup (p.Pro1145fs) rs886041731
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter) rs886042000
NM_006766.5(KAT6A):c.3553C>T (p.Gln1185Ter) rs374290942
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.3780del (p.Pro1261fs) rs1554680115
NM_006766.5(KAT6A):c.3782del (p.Pro1261fs) rs1554680113
NM_006766.5(KAT6A):c.4025del (p.Lys1342fs) rs1064793955
NM_006766.5(KAT6A):c.4210dup (p.Glu1404fs) rs1057518543
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4256_4260dup (p.Asp1421fs) rs1587708739
NM_006766.5(KAT6A):c.4273_4274del (p.Val1425fs) rs2150856278
NM_006766.5(KAT6A):c.4361dup (p.Thr1455fs) rs1554679835
NM_006766.5(KAT6A):c.4372_4373del (p.Ser1458fs) rs1587708558
NM_006766.5(KAT6A):c.4381C>T (p.Gln1461Ter) rs1057524195
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006766.5(KAT6A):c.5546_5555del (p.Met1849fs) rs886041480
NM_006766.5(KAT6A):c.5566del (p.Ser1856fs) rs1587706119
NM_006766.5(KAT6A):c.5639C>A (p.Ser1880Ter) rs201870299
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) rs1564039543
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879

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