ClinVar Miner

List of variants reported for Leber congenital amaurosis 1 by Genomics England Pilot Project, Genomics England

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NC_000017.11:g.8002596T>C	rs774980016	0.00004
NM_000180.4(GUCY2D):c.307G>A (p.Glu103Lys)	rs61749668	0.00004
NM_000180.4(GUCY2D):c.2872A>C (p.Ser958Arg)	rs2151803661
NM_000180.4(GUCY2D):c.3043+5G>A	rs751822337

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