List of variants studied for ABCA4-related retinopathy by Genetics and Molecular Pathology, SA Pathology

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys)	rs199840367	0.00013
NM_000350.3(ABCA4):c.1609C>T (p.Arg537Cys)	rs61748556	0.00003
NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter)	rs145961131	0.00003
NM_000350.3(ABCA4):c.3259G>A (p.Glu1087Lys)	rs61751398	0.00001
NM_000350.3(ABCA4):c.454C>T (p.Arg152Ter)	rs62646861	0.00001
NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter)	rs61753046	0.00001
NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter)	rs1057517700
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter)	rs1570382663
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys)	rs2101008373
NM_206933.4(USH2A):c.126C>G (p.Asn42Lys)	rs774473277

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