ClinVar Miner

List of variants in gene PDE6B reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1A>G (p.Met1Val) rs781003757 0.00002
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177

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.