ClinVar Miner

List of variants in gene LCA5 reported as uncertain significance for Leber congenital amaurosis 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP
NM_001122769.3(LCA5):c.*1044A>C rs1057174
NM_001122769.3(LCA5):c.*1113G>A rs886061787
NM_001122769.3(LCA5):c.*1137G>T rs528853254
NM_001122769.3(LCA5):c.*1300G>A rs16890805
NM_001122769.3(LCA5):c.*1316C>T rs552095479
NM_001122769.3(LCA5):c.*1543T>C rs886061786
NM_001122769.3(LCA5):c.*1559T>C rs886061785
NM_001122769.3(LCA5):c.*1573A>G rs140103894
NM_001122769.3(LCA5):c.*1577T>G rs184100878
NM_001122769.3(LCA5):c.*1680C>A rs886061784
NM_001122769.3(LCA5):c.*1752G>A rs1394281
NM_001122769.3(LCA5):c.*22dup rs767286706
NM_001122769.3(LCA5):c.*35del rs747368961
NM_001122769.3(LCA5):c.*473T>C rs528150967
NM_001122769.3(LCA5):c.*634A>C rs577878179
NM_001122769.3(LCA5):c.*640T>C rs45499200
NM_001122769.3(LCA5):c.*815A>C rs886061788
NM_001122769.3(LCA5):c.*842A>G rs746828530
NM_001122769.3(LCA5):c.*874A>G rs149782333
NM_001122769.3(LCA5):c.*875A>G rs180766217
NM_001122769.3(LCA5):c.*903A>G rs150693125
NM_001122769.3(LCA5):c.-192+62T>G rs9343917
NM_001122769.3(LCA5):c.-200G>A rs886061792
NM_001122769.3(LCA5):c.-251G>A rs886061793
NM_001122769.3(LCA5):c.-264A>C rs558234494
NM_001122769.3(LCA5):c.-304A>T rs886061794
NM_001122769.3(LCA5):c.-348C>T rs74442236
NM_001122769.3(LCA5):c.-398G>C rs370115829
NM_001122769.3(LCA5):c.-39T>C rs886061791
NM_001122769.3(LCA5):c.-414C>T rs538864087
NM_001122769.3(LCA5):c.-424C>G rs886061795
NM_001122769.3(LCA5):c.-429G>A rs541304321
NM_001122769.3(LCA5):c.1049C>T (p.Thr350Ile) rs375310752
NM_001122769.3(LCA5):c.1080A>G (p.Glu360=) rs779447463
NM_001122769.3(LCA5):c.1097T>C (p.Leu366Ser) rs200988021
NM_001122769.3(LCA5):c.1099-12A>G rs192066914
NM_001122769.3(LCA5):c.1138G>A (p.Gly380Arg) rs201814494
NM_001122769.3(LCA5):c.1181C>G (p.Thr394Arg) rs369178808
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284
NM_001122769.3(LCA5):c.1497A>G (p.Leu499=) rs199557499
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479
NM_001122769.3(LCA5):c.1746C>T (p.Asn582=) rs183011135
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.191-3T>A rs886061790
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166
NM_001122769.3(LCA5):c.2028C>T (p.Asp676=) rs768387283
NM_001122769.3(LCA5):c.211A>G (p.Lys71Glu) rs886061789
NM_001122769.3(LCA5):c.281G>A (p.Arg94Gln) rs34531407
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970
NM_001122769.3(LCA5):c.586C>T (p.Leu196=) rs114426854
NM_001122769.3(LCA5):c.859-12G>C rs115317386

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.