ClinVar Miner

List of variants studied for Retinitis pigmentosa 20 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser) rs61752909 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397

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