ClinVar Miner

List of variants reported as likely pathogenic for LCA5-related retinopathy by Baylor Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.491A>G (p.His164Arg) rs183669161 0.00004
NM_001122769.3(LCA5):c.652C>T (p.Arg218Ter) rs1318750068 0.00002
NM_001122769.3(LCA5):c.1444C>T (p.Arg482Ter) rs1182277140 0.00001
NM_001122769.3(LCA5):c.721-2A>T rs1769905934 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.1099-1G>A rs2533378064
NM_001122769.3(LCA5):c.122del (p.Ser41fs) rs2533451264
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter) rs761872177
NM_001122769.3(LCA5):c.129dup (p.Ala44fs) rs2533451235
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter) rs2127665995
NM_001122769.3(LCA5):c.1426A>T (p.Arg476Ter) rs2127665958
NM_001122769.3(LCA5):c.1490C>G (p.Ser497Ter) rs2533369844
NM_001122769.3(LCA5):c.1550_1551del (p.Arg517fs) rs767554181
NM_001122769.3(LCA5):c.1553T>A (p.Leu518Ter) rs2533369525
NM_001122769.3(LCA5):c.1579del (p.Ile527fs) rs2533369395
NM_001122769.3(LCA5):c.1673dup (p.Ser559fs) rs2533368804
NM_001122769.3(LCA5):c.1730dup (p.Leu577fs) rs1769696205
NM_001122769.3(LCA5):c.1795G>T (p.Glu599Ter) rs2533368021
NM_001122769.3(LCA5):c.1860_1861dup (p.Ser621fs) rs2533367339
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) rs2533439608
NM_001122769.3(LCA5):c.407del (p.Ser135_Leu136insTer) rs866130991
NM_001122769.3(LCA5):c.41del (p.Arg14fs) rs2533451770
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001122769.3(LCA5):c.604T>C (p.Ser202Pro) rs2533438607
NM_001122769.3(LCA5):c.680C>A (p.Ser227Ter) rs2127679884
NM_001122769.3(LCA5):c.686_687del (p.Glu229fs) rs2533438140
NM_001122769.3(LCA5):c.706G>T (p.Glu236Ter) rs377719240
NM_001122769.3(LCA5):c.753_754del (p.Asn251fs) rs2533392146
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001122769.3(LCA5):c.887del (p.Asn296fs) rs748907928
NM_001122769.3(LCA5):c.953dup (p.Asn318fs) rs1429753961
NM_001122769.3(LCA5):c.955+1G>A rs1481559911
NM_001122769.3(LCA5):c.982del (p.Leu328fs) rs2533386153

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.