ClinVar Miner

List of variants in gene PDE6H reported as uncertain significance for blindness (disorder)

Included ClinVar conditions (48):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006205.3(PDE6H):c.*71C>T rs144778897 0.00150
NM_006205.3(PDE6H):c.*358T>G rs558075003 0.00036
NM_006205.3(PDE6H):c.*369A>G rs571862339 0.00036
NM_006205.3(PDE6H):c.237G>C (p.Gln79His) rs564659543 0.00016
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_006205.3(PDE6H):c.*47G>C rs886049108 0.00001
NM_006205.3(PDE6H):c.-42C>T rs955172114 0.00001
NM_006205.3(PDE6H):c.*134G>A rs886049110
NM_006205.3(PDE6H):c.*77C>G rs886049109
NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser) rs199740819
NM_006205.3(PDE6H):c.59G>A (p.Arg20His) rs775561506

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.