List of variants reported as likely pathogenic for Leber congenital amaurosis by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)	rs188568530	0.00002
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln)	rs1588830568	0.00001
NM_201253.3(CRB1):c.2555T>C (p.Ile852Thr)	rs62636271	0.00001
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs)	rs61749670
NM_000180.4(GUCY2D):c.2129C>T (p.Ala710Val)	rs781725943
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu)	rs1266363944
NM_201253.3(CRB1):c.455G>A (p.Cys152Tyr)	rs1571848744

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