List of variants reported as pathogenic for Leber congenital amaurosis 1 by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln)	rs750889782	0.00001
NM_006915.3(RP2):c.486_490del (p.Gly163fs)	rs1569531639
NM_014249.4(NR2E3):c.1171_1172del (p.Phe391fs)	rs574936510
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_019098.5(CNGB3):c.991-3T>G	rs773372519

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