List of variants in gene FBXL8, HSF4 studied for cataract

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018378.3(FBXL8):c.711G>A (p.Leu237=)	rs61735433	0.04927
NM_018378.3(FBXL8):c.823G>A (p.Val275Ile)	rs201963745	0.00162
NM_018378.3(FBXL8):c.775G>C (p.Glu259Gln)	rs201429195	0.00143
NM_018378.3(FBXL8):c.1033G>C (p.Asp345His)	rs200404151	0.00024
NM_018378.3(FBXL8):c.883G>T (p.Ala295Ser)	rs201135322	0.00011
NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp)	rs768152063	0.00007
NM_018378.3(FBXL8):c.*277C>T	rs562489000	0.00006
NM_018378.3(FBXL8):c.*248A>G	rs886052213	0.00002
NM_018378.3(FBXL8):c.781G>C (p.Ala261Pro)	rs936318443	0.00002
NM_018378.3(FBXL8):c.822C>T (p.Ala274=)	rs1332713508	0.00001
NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys)	rs777343855	0.00001
NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys)	rs147591659
NM_018378.3(FBXL8):c.807_808dup (p.Val270fs)	rs763526640

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.