ClinVar Miner

List of variants in gene SAG reported as pathogenic for Oguchi disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000541.5(SAG):c.577C>T (p.Arg193Ter) rs201153410 0.00020
NM_000541.5(SAG):c.523C>T (p.Arg175Ter) rs587777209 0.00001
NM_000541.5(SAG):c.571C>T (p.Gln191Ter) rs1574942567
NM_000541.5(SAG):c.648+1G>C rs1700648887
NM_000541.5(SAG):c.649-1G>C rs929766806
NM_000541.5(SAG):c.874C>T (p.Arg292Ter) rs397514681
NM_000541.5(SAG):c.916G>T (p.Glu306Ter) rs397514682
NM_000541.5(SAG):c.926del (p.Asn309fs) rs587776778

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.