List of variants in gene combination ABCA4, LOC126805793 reported as pathogenic for Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19

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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.4773+3A>G	rs759672616	0.00004
NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp)	rs61750155	0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp)	rs61751404	0.00003
NM_000350.3(ABCA4):c.4919G>A (p.Arg1640Gln)	rs61751403	0.00001

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