ClinVar Miner

List of variants in gene KAT6A reported as pathogenic for bone disorder

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs) rs2150886504
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter) rs2150886359
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.1663del (p.Gln555fs) rs1822554467
NM_006766.5(KAT6A):c.1903-5_1903-2del rs1587727050
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) rs1661324893
NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3039+1G>A rs1554681382
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.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) rs1554680245
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter) rs755669455
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
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.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) rs1057516049
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs) rs2150856163
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
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.907+1del rs1564038389
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006766.5:c.3411del rs2150857178

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