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

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_000329.3(RPE65):c.715T>G (p.Tyr239Asp)	rs61752896	0.00002
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_018418.5(SPATA7):c.1171C>T (p.Arg391Ter)	rs374268850
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581
NM_019098.5(CNGB3):c.991-3T>G	rs773372519
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter)	rs776289402
NM_020366.4(RPGRIP1):c.799C>T (p.Arg267Ter)	rs554396590
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter)	rs1226324483

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