List of variants reported as likely pathogenic for Leber congenital amaurosis by Cytogenetics and Genomics Laboratory, Medical University of South Carolina

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.419G>A (p.Gly140Glu)	rs1191496583	0.00014
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile)	rs1429137932	0.00009
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	rs116733939	0.00004
NM_000329.3(RPE65):c.1338G>T (p.Arg446Ser)	rs1420672586	0.00002
NM_000329.3(RPE65):c.718G>T (p.Val240Phe)	rs192907397

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