ClinVar Miner

List of variants in gene RPGR reported as benign for not provided

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.619+308T>G rs5963402 0.42946
NM_001034853.2(RPGR):c.469+63C>T rs3810692 0.35456
NM_001034853.2(RPGR):c.2863T>G (p.Trp955Gly) rs765224300 0.29559
NM_001034853.2(RPGR):c.1507-101A>T rs5918520 0.28746
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.469+115A>G rs3810691 0.18442
NM_000328.3(RPGR):c.2149+247A>G rs67059793 0.16907
NM_000328.3(RPGR):c.1906-137T>A rs7876914 0.15848
NM_001034853.2(RPGR):c.310+270C>T rs5917198 0.15196
NM_001034853.2(RPGR):c.1059+67A>G rs11266204 0.13828
NM_001034853.2(RPGR):c.2341G>A (p.Ala781Thr) rs5917557 0.13157
NM_001034853.2(RPGR):c.935-71G>A rs41311843 0.12871
NM_001034853.2(RPGR):c.3396C>T (p.Asn1132=) rs12687163 0.12023
NM_001034853.2(RPGR):c.1697G>A (p.Gly566Glu) rs1801688 0.09526
NM_001034853.2(RPGR):c.*233A>C rs79675956 0.09450
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_001034853.2(RPGR):c.1754-103C>T rs41303691 0.09330
NM_001034853.2(RPGR):c.1507-97T>C rs62635007 0.09306
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_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_001034853.2(RPGR):c.935-277T>C rs140825561 0.03411
NM_001034853.2(RPGR):c.247+37A>C rs112264839 0.03398
NM_001034853.2(RPGR):c.620-41T>C rs45486397 0.03373
NM_001034853.2(RPGR):c.223A>G (p.Ile75Val) rs111631988 0.03363
NM_001034853.2(RPGR):c.1414+127A>G rs139924845 0.03306
NM_001034853.2(RPGR):c.1060-203G>A rs114972812 0.03108
NM_000328.3(RPGR):c.1906-130G>A rs147001251 0.02832
NM_001034853.2(RPGR):c.1059+25T>C rs80178653 0.02702
NM_000328.3(RPGR):c.2302C>A (p.Pro768Thr) rs34117835 0.02675
NM_001034853.2(RPGR):c.310+167G>A rs41303211 0.02575
NM_001034853.2(RPGR):c.247+205C>T rs141732238 0.02260
NM_001034853.2(RPGR):c.552G>T (p.Gln184His) rs5963403 0.02128
NM_001034853.2(RPGR):c.3231T>A (p.Asn1077Lys) rs62636730 0.02044
NM_000328.3(RPGR):c.2150-165T>G rs3896245 0.02024
NM_001034853.2(RPGR):c.1598C>T (p.Thr533Met) rs41312104 0.02014
NM_000328.3(RPGR):c.2242-105G>A rs140748292 0.01927
NM_001034853.2(RPGR):c.1059+409T>C rs112928193 0.01561
NM_001034853.2(RPGR):c.1059+587T>C rs147234036 0.01560
NM_001034853.2(RPGR):c.2808A>T (p.Glu936Asp) rs187844918 0.01026
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys) rs147388235 0.00850
NM_001034853.2(RPGR):c.2801A>G (p.Glu934Gly) rs751314374 0.00844
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001034853.2(RPGR):c.2057T>A (p.Met686Lys) rs151247357 0.00794
NM_001034853.2(RPGR):c.1033A>G (p.Asn345Asp) rs41305223 0.00731
NM_001034853.2(RPGR):c.1296A>T (p.Glu432Asp) rs28718831 0.00730
NM_001034853.2(RPGR):c.778+13T>A rs199625400 0.00624
NM_001034853.2(RPGR):c.2853G>A (p.Glu951=) rs766376194 0.00481
NM_001034853.2(RPGR):c.2634G>A (p.Gly878=) rs371230592 0.00067
NM_001034853.2(RPGR):c.154+14T>C rs200069705 0.00040
NM_001034853.2(RPGR):c.785C>G (p.Ala262Gly) rs138018739 0.00035
NM_001034853.2(RPGR):c.1163C>T (p.Ala388Val) rs199661899 0.00010
NM_000328.3(RPGR):c.*62_*68del rs11279874
NM_000328.3(RPGR):c.2091+114ACATGAAT[3] rs59767997
NM_000328.3(RPGR):c.2150-266T>A rs4827345
NM_001034853.2(RPGR):c.*125del rs35637775
NM_001034853.2(RPGR):c.1414+1155G>A
NM_001034853.2(RPGR):c.1414+1428A>G
NM_001034853.2(RPGR):c.1414+1450C>G
NM_001034853.2(RPGR):c.1507-103_1507-100del rs10567683
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001034853.2(RPGR):c.2331GGA[1] (p.Glu779del) rs201730068
NM_001034853.2(RPGR):c.2520GGAGGGGGAAGAGGAGGAAGG[1] (p.829EEEEGEG[3]) rs751710678
NM_001034853.2(RPGR):c.2535_2558del (p.Glu846_Glu853del) rs760332126
NM_001034853.2(RPGR):c.2606_2620del (p.Glu869_Glu873del) rs200824587
NM_001034853.2(RPGR):c.28+266dup rs1232638719
NM_001034853.2(RPGR):c.2820_2840dup (p.Asp943_Glu949dup) rs764268405
NM_001034853.2(RPGR):c.2919_2939dup (p.970GEGEGEE[3]) rs772859148
NM_001034853.2(RPGR):c.3051_3053del (p.Glu1018del) rs200955614
NM_001034853.2(RPGR):c.3060_3071del (p.1021_1024VEGE[1]) rs199896738
NM_001034853.2(RPGR):c.3062TGGAAGGGGAGG[1] (p.1021VEGE[1]) rs201134185
NM_001034853.2(RPGR):c.3108_3122del (p.1033EGEEE[1]) rs774012136
NM_001034853.2(RPGR):c.3116_3118del (p.Gly1039del) rs200211905
NM_001034853.2(RPGR):c.469+293_469+298del rs199613892
NM_001034853.2(RPGR):c.620-105G>C rs35019417
NM_001034853.2(RPGR):c.778+84dup rs35587043

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