ClinVar Miner

List of variants in gene RPGR reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 32
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HGVS dbSNP gnomAD frequency
GRCh38/hg38 Xp11.4(chrX:38269073-38287133)x0
GRCh38/hg38 Xp11.4(chrX:38297187-38299239)x0
GRCh38/hg38 Xp11.4(chrX:38301150-38301469)x0
NM_001034853.2(RPGR):c.114dup (p.His39fs) rs2147291671
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
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.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2409_2479dup (p.Glu827delinsGlyGluGlyArgLysLysArgArgGluGlyLysTer)
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.2571del (p.Glu859fs) rs1555961704
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
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.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.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3221_3225del (p.Glu1074fs)
NM_001034853.2(RPGR):c.470-13T>G

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