List of variants reported as pathogenic for age-related macular degeneration by Molecular Genetics, Royal Melbourne Hospital

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)	rs61751408	0.00018
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met)	rs61750152	0.00016
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	rs201471607	0.00007
NM_000350.3(ABCA4):c.768G>T (p.Val256=)	rs62645944	0.00006
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp)	rs61749409	0.00002
NM_000350.3(ABCA4):c.2347C>T (p.Gln783Ter)	rs2101069632

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