List of variants reported as likely pathogenic for Leber congenital amaurosis 2; Retinitis pigmentosa 20; Retinitis pigmentosa 87 with choroidal involvement

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr)	rs767528365	0.00012
NM_000329.3(RPE65):c.617T>C (p.Ile206Thr)	rs768445391	0.00004
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly)	rs62637004	0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	rs199683808	0.00002
NM_000329.3(RPE65):c.1244C>T (p.Ala415Val)	rs1064795255	0.00001
NM_000329.3(RPE65):c.1249G>C (p.Glu417Gln)	rs62636299	0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro)	rs774309607	0.00001
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
NM_000329.3(RPE65):c.1244-1G>A
NM_000329.3(RPE65):c.1293C>A (p.Tyr431Ter)
NM_000329.3(RPE65):c.1338+1G>A	rs1057518922
NM_000329.3(RPE65):c.1416del (p.Phe472fs)
NM_000329.3(RPE65):c.143G>A (p.Gly48Glu)	rs2100831413
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	rs62653015
NM_000329.3(RPE65):c.246-11A>G	rs905365719
NM_000329.3(RPE65):c.304G>A (p.Glu102Lys)	rs62642584
NM_000329.3(RPE65):c.41_42del (p.Lys14fs)
NM_000329.3(RPE65):c.540C>A (p.His180Gln)
NM_000329.3(RPE65):c.61del (p.Glu21fs)	rs758550330
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397
NM_000329.3(RPE65):c.726-2A>T	rs878853372
NM_000329.3(RPE65):c.864G>A (p.Trp288Ter)
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe)	rs1169420841

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