ClinVar Miner

List of variants in gene KAT6B reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_012330.4(KAT6B):c.2347C>T (p.Arg783Ter)
NM_012330.4(KAT6B):c.257del (p.Gly86fs) rs886039742
NM_012330.4(KAT6B):c.282del (p.Ser95fs) rs1564515829
NM_012330.4(KAT6B):c.2848_2849del (p.Lys950fs)
NM_012330.4(KAT6B):c.3004C>T (p.Arg1002Ter) rs2134159699
NM_012330.4(KAT6B):c.3021+1G>T rs1057524241
NM_012330.4(KAT6B):c.3040C>T (p.Gln1014Ter) rs2134165472
NM_012330.4(KAT6B):c.3118C>T (p.Gln1040Ter) rs1564625942
NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) rs886041207
NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) rs1554843815
NM_012330.4(KAT6B):c.3253del (p.Glu1085fs) rs1554843880
NM_012330.4(KAT6B):c.3286G>T (p.Glu1096Ter) rs770674400
NM_012330.4(KAT6B):c.3349C>T (p.Gln1117Ter) rs1554843977
NM_012330.4(KAT6B):c.3349_3350del (p.Gln1117fs)
NM_012330.4(KAT6B):c.3366_3369del (p.Lys1124fs)
NM_012330.4(KAT6B):c.3401del (p.Gly1134fs) rs1064796000
NM_012330.4(KAT6B):c.3499_3500del (p.Arg1167fs) rs886041540
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs) rs199470472
NM_012330.4(KAT6B):c.3851_3858del (p.Asp1284fs) rs1554845439
NM_012330.4(KAT6B):c.3906del (p.Ser1303fs) rs2134234910
NM_012330.4(KAT6B):c.3974_3987del (p.Arg1325fs) rs2134235615
NM_012330.4(KAT6B):c.4087G>T (p.Glu1363Ter) rs1462584619
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_012330.4(KAT6B):c.4379del (p.Phe1459_Leu1460insTer) rs1057517906
NM_012330.4(KAT6B):c.457C>T (p.Arg153Ter) rs1564516087
NM_012330.4(KAT6B):c.4602del (p.Met1535fs) rs1554845914
NM_012330.4(KAT6B):c.4911_4921del (p.Val1638fs) rs199470480
NM_012330.4(KAT6B):c.5101C>T (p.Gln1701Ter) rs886041883
NM_012330.4(KAT6B):c.5254C>T (p.Gln1752Ter) rs924532501
NM_012330.4(KAT6B):c.708_709del (p.Ala238fs) rs1064796095

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.