ClinVar Miner

List of variants in gene ABCA4 reported as not provided for Cone-rod dystrophy 3; Retinitis pigmentosa 19; Age-related macular degeneration

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)	rs76157638	0.00445
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn)	rs62642574	0.00006

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