ClinVar Miner

List of variants reported as benign for achromatopsia by Mendelics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp) rs6471482 0.88912
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro) rs4961206 0.64246
NM_007348.4(ATF6):c.1434-3T>A rs2257107 0.48568
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_007348.4(ATF6):c.199A>G (p.Met67Val) rs1058405 0.21366

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.