ClinVar Miner

List of variants reported as uncertain significance for Pigmentary retinopathy; Macular degeneration; Blurred vision; Abnormality of retinal pigmentation by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_005802.5(TOPORS):c.1379G>C (p.Gly460Ala)	rs146483990

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