ClinVar Miner

List of variants in gene RPGR reported as likely pathogenic for Retinitis pigmentosa

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_001034853.2(RPGR):c.114dup (p.His39fs) rs2147291671
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs) rs1601943227
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_001034853.2(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
NM_001034853.2(RPGR):c.2234_2237del (p.Arg745fs) rs1555961852
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2250_2251del (p.Lys751fs) rs1555961849
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2420_2435del (p.Glu807fs) rs2147197891
NM_001034853.2(RPGR):c.2452G>T (p.Glu818Ter) rs2147197770
NM_001034853.2(RPGR):c.2474_2475insT (p.Glu825fs) rs2147197552
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2506dup (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2516_2520del (p.Glu839fs) rs2067176379
NM_001034853.2(RPGR):c.2567_2568del (p.Gly856fs)
NM_001034853.2(RPGR):c.264_265del (p.Lys88fs) rs2147285764
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg) rs1601978925
NM_001034853.2(RPGR):c.2817_2818del (p.Glu940fs) rs2147194427
NM_001034853.2(RPGR):c.2824del (p.Glu942fs) rs1601920131
NM_001034853.2(RPGR):c.2898_2899del (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.2909del (p.Gly970fs) rs2147193425
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.779-3C>A rs1555965712
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_001034853.2(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro) rs527236112

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