ClinVar Miner

List of variants reported as pathogenic for Leber congenital amaurosis 5 by DBGen Ocular Genomics

Included ClinVar conditions (1):

Leber congenital amaurosis 5

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter)	rs1268307330
NM_001122769.3(LCA5):c.1368dup (p.Glu457fs)	rs2127666004
NM_001122769.3(LCA5):c.346C>T (p.Gln116Ter)

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