List of variants reported as likely pathogenic for Leber congenital amaurosis 2 by Laboratory of Genetics in Ophthalmology, Institut Imagine

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp)	rs61752871	0.00006
NM_000329.3(RPE65):c.131G>A (p.Arg44Gln)	rs61751282	0.00004
NM_000329.3(RPE65):c.65T>C (p.Leu22Pro)	rs61751277	0.00004
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn)	rs61752905	0.00003
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu)	rs199683808	0.00002
NM_000329.3(RPE65):c.499G>T (p.Asp167Tyr)	rs61752883	0.00001
NM_000329.3(RPE65):c.1301C>A (p.Ala434Glu)	rs34627040
NM_000329.3(RPE65):c.1418T>A (p.Val473Asp)	rs62637007
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del)	rs1557595745
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)	rs62653015
NM_000329.3(RPE65):c.186_191del (p.Asp62_Gln64delinsGlu)	rs1645945582
NM_000329.3(RPE65):c.187G>C (p.Gly63Arg)	rs1645945643
NM_000329.3(RPE65):c.272G>C (p.Arg91Pro)	rs61752873
NM_000329.3(RPE65):c.314C>A (p.Thr105Asn)	rs1260914084
NM_000329.3(RPE65):c.407T>G (p.Val136Gly)	rs1645928251
NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)	rs61752882
NM_000329.3(RPE65):c.544C>A (p.His182Asn)	rs61752884
NM_000329.3(RPE65):c.571A>G (p.Asn191Asp)	rs1189903735
NM_000329.3(RPE65):c.770T>G (p.Val257Gly)	rs1645883131
NM_000329.3(RPE65):c.914G>T (p.Arg305Ile)	rs1645880293
NM_000329.3(RPE65):c.923C>T (p.Pro308Leu)	rs1645880232
NM_000329.3(RPE65):c.989G>A (p.Cys330Tyr)	rs61752908

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