List of variants in gene combination ABCA4, LOC126805793 reported as likely pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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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: 6

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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.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.5018+2T>C	rs61750562	0.00001
NM_000350.3(ABCA4):c.5018+5G>A	rs1553188588	0.00001
NM_000350.3(ABCA4):c.4727T>G (p.Leu1576Arg)	rs1553188682

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