ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 5 by Laboratory of Genetics in Ophthalmology, Institut Imagine

Included ClinVar conditions (1):
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Total variants: 11
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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.1186G>T (p.Glu396Ter) rs1769761816
NM_001122769.3(LCA5):c.1486G>T (p.Glu496Ter) rs1769706250
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.858+1G>C rs753594556
NM_001122769.3(LCA5):c.93del (p.Gln31fs) rs1766528592

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