ClinVar Miner

List of variants in gene RPGR reported as benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.29-15G>A rs6651585 0.21451
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_001034853.2(RPGR):c.1245+16A>G rs5918522 0.13807
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr) rs5917557 0.13157
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_001034853.2(RPGR):c.1274G>A (p.Arg425Lys) rs1801687 0.09261
NM_001034853.2(RPGR):c.2223G>A (p.Glu741=) rs147619484 0.08849
NM_001034853.2(RPGR):c.3430G>A (p.Val1144Ile) rs12688514 0.07772
NM_001034853.2(RPGR):c.3219C>T (p.Gly1073=) rs111787313 0.06277
NM_001034853.2(RPGR):c.3264G>A (p.Val1088=) rs78736275 0.06219
NM_001034853.2(RPGR):c.1291A>G (p.Ile431Val) rs62635003 0.05955
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000328.3(RPGR):c.2242-8T>C rs112368541 0.01109
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001034853.2(RPGR):c.778+13T>A rs199625400 0.00624
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.2667_2669del (p.Glu890del) rs199663434
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1]) rs199896738

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