ClinVar Miner

List of variants reported as not provided for Leber congenital amaurosis

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)	rs61750420	0.00025
NM_001122769.3(LCA5):c.521G>A (p.Arg174His)	rs144016257	0.00014
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val)	rs901281230

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