ClinVar Miner

List of variants reported as pathogenic for Retinitis punctata albescens by Sharon lab, Hadassah-Hebrew University Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000326.5(RLBP1):c.286_297del (p.Phe96_Phe99del)	rs786205626
NM_001142800.2(EYS):c.4361_4362delinsAG (p.Ser1454Ter)	rs1582930081
NM_002905.5(RDH5):c.718dup (p.Ala240fs)	rs753378940

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