List of variants in gene AGK reported as likely pathogenic for cataract 38

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_018238.4(AGK):c.519-1G>A	rs2485410335	0.00001
NC_000007.13:g.(?_141292926)_(141293005_?)dup
NM_018238.4(AGK):c.1047-2A>T	rs886041491
NM_018238.4(AGK):c.1150_1154del (p.Phe383_Ser384insTer)	rs773677513
NM_018238.4(AGK):c.222-2A>C
NM_018238.4(AGK):c.390+1G>A	rs777096695
NM_018238.4(AGK):c.424-3C>G	rs766413410
NM_018238.4(AGK):c.519-2A>G	rs2485410329
NM_018238.4(AGK):c.976-1G>C

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.