ClinVar Miner

List of variants reported as pathogenic for Late-onset retinal degeneration

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000929.3(PLA2G5):c.280dup (p.Val94fs)	rs1569848362
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg)	rs111033578
NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr)	rs1591299252

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