ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter) rs2147199519
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_001034853.2(RPGR):c.29-2A>G rs2147291936
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs) rs2147190484

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