List of variants reported as pathogenic for age-related macular degeneration by 3billion

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	rs62642564	0.00654
NM_000350.3(ABCA4):c.634C>T (p.Arg212Cys)	rs61750200	0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)	rs201471607	0.00007
NM_000350.3(ABCA4):c.2453G>A (p.Gly818Glu)	rs61750202	0.00006
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)	rs61750142	0.00003
NM_000350.3(ABCA4):c.3898C>T (p.Arg1300Ter)	rs61752427	0.00002
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)	rs62645946	0.00001
NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter)	rs61750137	0.00001
NM_000350.3(ABCA4):c.4436G>A (p.Trp1479Ter)	rs61752434	0.00001
NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter)	rs61753038	0.00001
NM_000350.3(ABCA4):c.3304G>T (p.Asp1102Tyr)	rs138641544
NM_000350.3(ABCA4):c.3470T>G (p.Leu1157Ter)	rs2101048479
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)	rs62646872

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