ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis by Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000843.4(GRM6):c.1861C>T (p.Arg621Ter) rs62638214
NM_003835.4(RGS9):c.895T>C (p.Trp299Arg) rs121908449
NM_014336.5(AIPL1):c.815G>C (p.Arg272Pro) rs1284009768
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014
NM_019098.4(CNGB3):c.1148del (p.Thr383fs) rs397515360
NM_020366.3(RPGRIP1):c.194G>A (p.Trp65Ter) rs137853124
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.4(CEP290):c.5587-1G>C rs968692633
NM_033100.4(CDHR1):c.524dup (p.Asn176fs) rs781781440

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.