ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 20 by Ocular Genomics Institute, Massachusetts Eye and Ear

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000329.3(RPE65):c.2T>C (p.Met1Thr)	rs281865285	0.00001
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter)	rs62637006
NM_000329.3(RPE65):c.89dup (p.Thr31fs)	rs281865286

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