ClinVar Miner

List of variants in gene PCARE reported as likely pathogenic by Department of Ophthalmology and Visual Sciences Kyoto University

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Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056

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