ClinVar Miner

List of variants studied for LCA5-related retinopathy by Baylor Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00134
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter) rs1318750068 0.00002
NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter) rs1766524422 0.00001
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) rs772573829 0.00001
NM_001122769.3(LCA5):c.238C>T (p.Arg80Ter) rs781035395 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001122769.3(LCA5):c.795T>G (p.Tyr265Ter) rs1453987164 0.00001
NM_001122769.3(LCA5):c.859-2A>G rs757681601 0.00001
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr) rs1178243254 0.00001
NM_001122769.3(LCA5):c.1062C>G (p.Tyr354Ter) rs183261547
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) rs1769845495
NM_001122769.3(LCA5):c.1099-1G>A
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.122del (p.Ser41fs)
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) rs1268307330
NM_001122769.3(LCA5):c.129dup (p.Ala44fs)
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter) rs2127665995
NM_001122769.3(LCA5):c.1466del (p.Leu489fs) rs1240302846
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs)
NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter)
NM_001122769.3(LCA5):c.1673dup (p.Ser559fs)
NM_001122769.3(LCA5):c.1730dup (p.Leu577fs)
NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter)
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)
NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs)
NM_001122769.3(LCA5):c.190+1G>A rs746351112
NM_001122769.3(LCA5):c.30dup (p.Asp11Ter) rs1248460033
NM_001122769.3(LCA5):c.400_403del (p.Lys134fs)
NM_001122769.3(LCA5):c.41del (p.Arg14fs)
NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)
NM_001122769.3(LCA5):c.491A>G (p.His164Arg)
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.686_687del (p.Glu229fs)
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001122769.3(LCA5):c.887del (p.Asn296fs)
NM_001122769.3(LCA5):c.953dup (p.Asn318fs) rs1429753961
NM_001122769.3(LCA5):c.955+1G>A

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.