ClinVar Miner

List of variants reported as not provided for Leber congenital amaurosis by GenomeConnect - Invitae Patient Insights Network

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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.521G>A (p.Arg174His)	rs144016257	0.00014
NM_001122769.3(LCA5):c.469A>G (p.Ile157Val)	rs901281230

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