ClinVar Miner

List of variants in gene LCA5 reported as likely benign for LCA5-related retinopathy

Included ClinVar conditions (1):
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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.*1528G>A rs41269343 0.11829
NM_001122769.3(LCA5):c.*1300G>A rs16890805 0.02447
NM_001122769.3(LCA5):c.*1495G>A rs76104104 0.02321
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001122769.3(LCA5):c.768G>A (p.Gln256=) rs142495741 0.00024
NM_001122769.3(LCA5):c.1099-12A>G rs192066914 0.00016
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001122769.3(LCA5):c.1518C>T (p.Pro506=) rs769091728 0.00001
NM_001122769.3(LCA5):c.1242A>G (p.Arg414=) rs1769717155
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.1785T>A (p.Ile595=) rs544388502
NM_001122769.3(LCA5):c.642C>T (p.His214=) rs541395332
NM_001122769.3(LCA5):c.735C>T (p.Asn245=) rs781334192
NM_001122769.3(LCA5):c.759C>T (p.Phe253=) rs528612334
NM_001122769.3(LCA5):c.859-12G>C rs115317386

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