List of variants reported as pathogenic for Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement by Fulgent Genetics, Fulgent Genetics

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.11+5G>A	rs61751276	0.00014
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)	rs61752877	0.00013
NM_000329.3(RPE65):c.118G>A (p.Gly40Ser)	rs61751281	0.00003
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)	rs61752909	0.00001
NM_000329.3(RPE65):c.907A>T (p.Lys303Ter)	rs61752904	0.00001
NM_000329.3(RPE65):c.95-2A>T	rs61751279	0.00001
NM_000329.3(RPE65):c.440_441del (p.Thr147fs)	rs1201299067

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