List of variants reported as uncertain significance for ABCA4-related retinopathy by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln)	rs62646862	0.00276
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)	rs61754024	0.00178
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg)	rs368367104	0.00019
NM_000350.3(ABCA4):c.3608-35A>G	rs372604876	0.00008
NM_000350.3(ABCA4):c.302+68C>T	rs761188244	0.00006
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)	rs2101008373
NM_000350.3(ABCA4):c.859-13T>C	rs1246188478

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