ClinVar Miner

List of variants reported as uncertain significance for Achromatopsia by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181 0.00003
NM_001298.3(CNGA3):c.796G>A (p.Val266Met) rs536335712
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) rs1554892155
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr) rs1554892197
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly) rs1554892199
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849

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.