ClinVar Miner

List of variants reported as likely benign for congenital stationary night blindness autosomal dominant 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.*474C>G rs577140751 0.00180
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met) rs149359860 0.00016
NM_000283.4(PDE6B):c.2269-11C>T rs370169775 0.00008
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) rs145756948 0.00007
NM_000283.4(PDE6B):c.59G>A (p.Arg20His) rs781251175 0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile) rs201584824 0.00006
NM_000283.4(PDE6B):c.285C>T (p.Phe95=) rs746211772 0.00003
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=) rs769147926 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_000283.4(PDE6B):c.*79A>G rs753277194 0.00001

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.