ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 5

Included ClinVar conditions (1):
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Total variants: 29
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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.103C>T (p.Arg35Ter) rs748370008 0.00001
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>A (p.Tyr354Ter) rs183261547
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.1186G>T (p.Glu396Ter) rs1769761816
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) rs1268307330
NM_001122769.3(LCA5):c.1368dup (p.Glu457fs) rs2127666004
NM_001122769.3(LCA5):c.1466del (p.Leu489fs) rs1240302846
NM_001122769.3(LCA5):c.1476dup (p.Pro493fs) rs386834253
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) rs1769706250
NM_001122769.3(LCA5):c.1819_1820del (p.Gln607fs)
NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)
NM_001122769.3(LCA5):c.42_45del (p.Lys15fs)
NM_001122769.3(LCA5):c.527_529del (p.Arg176del) rs1766311895
NM_001122769.3(LCA5):c.535_536insT (p.Gln179fs) rs1766311263
NM_001122769.3(LCA5):c.574dup (p.Thr192fs) rs1057519136
NM_001122769.3(LCA5):c.610C>T (p.Gln204Ter) rs1766298401
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs) rs1769904494
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428
NM_001122769.3(LCA5):c.858+1G>C rs753594556
NM_001122769.3(LCA5):c.93del (p.Gln31fs) rs1766528592
NM_181714.4(LCA5):c.0_-298+211del

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