ClinVar Miner

List of variants in gene RD3 reported as likely benign for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_183059.2(RD3):c.*1307_*1308insCT rs142577368
NM_183059.2(RD3):c.*1331G>A rs11119747
NM_183059.2(RD3):c.*1343G>C rs11119746
NM_183059.2(RD3):c.*1649T>C rs12076715
NM_183059.2(RD3):c.*193G>C rs11119748
NM_183059.2(RD3):c.*368A>T rs1947058
NM_183059.2(RD3):c.*471C>T rs34433079
NM_183059.2(RD3):c.-1123T>C rs10863899

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.