List of variants reported as pathogenic for age-related macular degeneration by Genetics and Molecular Pathology, SA Pathology

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	rs145961131	0.00002
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046

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