ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro) rs527236112

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