List of variants reported as pathogenic for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)	rs148460146	0.00024
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	rs201471607	0.00007
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys)	rs752786160	0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys)	rs756840095	0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His)	rs62645958	0.00006
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys)	rs61750061	0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val)	rs760549861	0.00001
NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala)	rs61749457

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