ClinVar Miner

List of variants in gene LCA5 reported as likely pathogenic for Leber congenital amaurosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)	rs1286660951
NM_001122769.3(LCA5):c.550del (p.Ala184fs)	rs2127680021

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