ClinVar Miner

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

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
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.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
NM_001122769.3(LCA5):c.122del (p.Ser41fs)
NM_001122769.3(LCA5):c.1236G>A (p.Trp412Ter)
NM_001122769.3(LCA5):c.129dup (p.Ala44fs)
NM_001122769.3(LCA5):c.1378G>T (p.Glu460Ter) rs2127665995
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.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.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.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

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