ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001122769.3(LCA5):c.142A>T (p.Arg48Ter) rs1766524422 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.1062C>G (p.Tyr354Ter) rs183261547
NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer) rs1769845495
NM_001122769.3(LCA5):c.1151del (p.Pro384fs) rs386834252
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) rs1268307330
NM_001122769.3(LCA5):c.1466del (p.Leu489fs) rs1240302846
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)
NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428

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