ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic by Institute of Medical Molecular Genetics, University of Zurich

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2008_2017del (p.Gln670fs) rs2067196699
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.2819_2838dup (p.Glu947fs) rs2067149319

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