List of variants in gene combination ABCA4, LOC126805793 reported as likely pathogenic for age-related macular degeneration

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg)	rs113106943	0.00239
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)	rs1762111	0.00132
NM_000350.3(ABCA4):c.4773G>T (p.Gly1591=)	rs751844313	0.00003
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	rs61750155	0.00003
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser)	rs777415466	0.00002
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro)	rs61750153	0.00001
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)	rs61753017	0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser)	rs1211325812	0.00001
NM_000350.3(ABCA4):c.5018+2T>C	rs61750562	0.00001
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)	rs1553188682
NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)
NM_000350.3(ABCA4):c.4854G>C (p.Trp1618Cys)	rs61752439
NM_000350.3(ABCA4):c.4958G>A (p.Gly1653Glu)	rs1659888526
NM_000350.3(ABCA4):c.4979C>T (p.Pro1660Leu)	rs886044746

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