ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 20 by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
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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