List of variants reported as likely pathogenic for age-related macular degeneration by Ophthalmo-Genetics Lab, Instituto de Oftalmologia Conde de Valenciana

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.5460+3G>A	rs371777196	0.00008
NM_000350.3(ABCA4):c.1694C>A (p.Pro565His)	rs765891059	0.00001
NM_000350.3(ABCA4):c.2396C>T (p.Pro799Leu)	rs542919944	0.00001
NM_000350.3(ABCA4):c.1201A>T (p.Thr401Ser)	rs559674920
NM_000350.3(ABCA4):c.2522_2530del (p.Gln841_Met843del)
NM_000350.3(ABCA4):c.4313C>A (p.Pro1438Gln)
NM_000350.3(ABCA4):c.6401A>G (p.Glu2134Gly)	rs2100993742
NM_000350.3(ABCA4):c.6446G>C (p.Arg2149Pro)	rs61750655
NM_000350.3(ABCA4):c.689G>T (p.Cys230Phe)

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