List of variants reported as pathogenic for Leber congenital amaurosis by Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)	rs752058510	0.00001
NM_006017.3(PROM1):c.1984-1G>T	rs373680665	0.00001
NM_020366.4(RPGRIP1):c.2895+1G>T	rs748072501	0.00001
NM_025114.4(CEP290):c.4705-1G>T	rs777464278	0.00001
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	rs121434337	0.00001
NM_001122769.3(LCA5):c.744_750del (p.Ser249fs)	rs1769904494
NM_006017.3(PROM1):c.784+1G>A	rs745704627
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)	rs567890014
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)	rs780667159
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	rs766631462
NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	rs761167763
NM_201253.3(CRB1):c.3626_3627del (p.Val1209fs)

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