ClinVar Miner

List of variants studied for Leber congenital amaurosis by Molecular Genetics Laboratory,Institute for Ophthalmic Research

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000283.3(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val)
NM_001023570.4(IQCB1):c.812del (p.Ser271fs)
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs)
NM_020366.3(RPGRIP1):c.2368-2A>G rs1064797182
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr)
NM_025114.4(CEP290):c.102+1G>T
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter)
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro)
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128

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.