ClinVar Miner

List of variants in gene USH2A reported as pathogenic for Blindness; Rod-cone dystrophy; Pigmentary retinopathy; Abnormal macular morphology; Retinal pigment epithelial atrophy

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Total variants: 1
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NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272

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