ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 133
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001034853.2(RPGR):c.2543del (p.Glu848fs) rs1233849070 0.00002
NM_001034853.2(RPGR):c.1054_1058del (p.Lys352fs) rs1555965081
NM_001034853.2(RPGR):c.1092dup (p.Ala365fs) rs281865301
NM_001034853.2(RPGR):c.1120G>T (p.Glu374Ter) rs62635001
NM_001034853.2(RPGR):c.1187dup (p.Leu396fs) rs1555964576
NM_001034853.2(RPGR):c.1216_1217del (p.Leu406fs) rs2067448565
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.1220C>A (p.Ser407Ter) rs772201779
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1243_1244del (p.Arg415fs) rs281865302
NM_001034853.2(RPGR):c.1246-2A>C rs2067410562
NM_001034853.2(RPGR):c.1281_1282del (p.Leu428fs) rs2067408614
NM_001034853.2(RPGR):c.1345C>T (p.Arg449Ter) rs2067406342
NM_001034853.2(RPGR):c.1387C>T (p.Gln463Ter) rs886044302
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.154G>A (p.Gly52Arg) rs281865296
NM_001034853.2(RPGR):c.155-1G>A rs1601982595
NM_001034853.2(RPGR):c.155-2A>G rs62638632
NM_001034853.2(RPGR):c.1561C>T (p.Gln521Ter)
NM_001034853.2(RPGR):c.1573-2A>G rs62635009
NM_001034853.2(RPGR):c.1796dup (p.Asn599fs) rs2147200895
NM_001034853.2(RPGR):c.179G>T (p.Gly60Val) rs62638634
NM_001034853.2(RPGR):c.1836del (p.Asn612fs) rs2067201253
NM_001034853.2(RPGR):c.1872_1873del (p.Glu624fs) rs2067200470
NM_001034853.2(RPGR):c.1932_1933insC (p.Gly645fs) rs2147200451
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2105_2213dup (p.Glu742fs)
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2146G>T (p.Glu716Ter) rs2067191335
NM_001034853.2(RPGR):c.2167del (p.Arg723fs) rs2067190976
NM_001034853.2(RPGR):c.219del (p.Ala74fs) rs1601982474
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter) rs983693027
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2246_2253del (p.Glu749fs)
NM_001034853.2(RPGR):c.2252_2255del (p.Lys751fs) rs1475590979
NM_001034853.2(RPGR):c.2257G>T (p.Gly753Ter) rs267606453
NM_001034853.2(RPGR):c.2257_2260del (p.Gly753fs) rs2067187618
NM_001034853.2(RPGR):c.2260G>T (p.Glu754Ter) rs2067187550
NM_001034853.2(RPGR):c.2270_2271del (p.Glu757fs)
NM_001034853.2(RPGR):c.2274_2277del (p.Gly759fs)
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2323_2324del (p.Arg775fs) rs1555961832
NM_001034853.2(RPGR):c.2330del (p.Lys777fs) rs2147198604
NM_001034853.2(RPGR):c.2340del (p.Ala781fs) rs2067185564
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2403_2406del (p.Glu802fs) rs2067183162
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
NM_001034853.2(RPGR):c.2412_2413del (p.Glu806fs) rs2067182636
NM_001034853.2(RPGR):c.2412_2418del (p.Gly805fs)
NM_001034853.2(RPGR):c.2423_2424del (p.Lys808fs)
NM_001034853.2(RPGR):c.2426_2427del (p.Glu809fs) rs730882261
NM_001034853.2(RPGR):c.2442_2445del (p.Gly817fs) rs1569237077
NM_001034853.2(RPGR):c.2476_2477del (p.Arg826fs) rs2067179633
NM_001034853.2(RPGR):c.2480_2520dup (p.Glu841fs) rs2147197209
NM_001034853.2(RPGR):c.2491G>T (p.Glu831Ter) rs865977487
NM_001034853.2(RPGR):c.2501_2502del (p.Glu834fs)
NM_001034853.2(RPGR):c.2501del (p.Glu834fs) rs2067178120
NM_001034853.2(RPGR):c.2505_2506del (p.Glu836fs) rs1569236971
NM_001034853.2(RPGR):c.2506del (p.Glu836fs)
NM_001034853.2(RPGR):c.2517_2518del (p.Glu841fs) rs1373833359
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.2548G>T (p.Glu850Ter) rs1601922074
NM_001034853.2(RPGR):c.2548del (p.Glu850fs) rs2067174697
NM_001034853.2(RPGR):c.2562del (p.Glu855fs)
NM_001034853.2(RPGR):c.2571_2572del (p.Glu859fs) rs2067172385
NM_001034853.2(RPGR):c.2590G>T (p.Glu864Ter)
NM_001034853.2(RPGR):c.2601_2602del (p.Glu868fs) rs2067169934
NM_001034853.2(RPGR):c.2625dup (p.Gly876fs)
NM_001034853.2(RPGR):c.2628_2629del (p.Glu877fs) rs2067166789
NM_001034853.2(RPGR):c.2644G>T (p.Glu882Ter)
NM_001034853.2(RPGR):c.2650G>T (p.Glu884Ter) rs137852549
NM_001034853.2(RPGR):c.2655_2656del (p.Glu886fs) rs2067164096
NM_001034853.2(RPGR):c.2679_2680del (p.Glu894fs) rs2147195624
NM_001034853.2(RPGR):c.2689G>T (p.Glu897Ter) rs2067161460
NM_001034853.2(RPGR):c.2714_2715del (p.Glu905fs) rs2067160273
NM_001034853.2(RPGR):c.2730_2731del (p.Glu911fs)
NM_001034853.2(RPGR):c.2743G>T (p.Glu915Ter)
NM_001034853.2(RPGR):c.2763_2764del (p.Glu922fs) rs2067157388
NM_001034853.2(RPGR):c.2777_2778del (p.Glu926fs) rs1601920532
NM_001034853.2(RPGR):c.2785dup (p.Glu929fs) rs2067155200
NM_001034853.2(RPGR):c.2790_2791del (p.Glu931fs) rs1601920423
NM_001034853.2(RPGR):c.2791del (p.Glu931fs)
NM_001034853.2(RPGR):c.2838_2839del (p.Glu947fs) rs1555961509
NM_001034853.2(RPGR):c.2845del (p.Glu949fs) rs2067148119
NM_001034853.2(RPGR):c.2848G>T (p.Glu950Ter) rs1601919915
NM_001034853.2(RPGR):c.2862dup (p.Trp955fs)
NM_001034853.2(RPGR):c.2863_2866del (p.Trp955fs)
NM_001034853.2(RPGR):c.2894del (p.Glu965fs) rs2147193654
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.2916_2917del (p.Glu973fs) rs2067140574
NM_001034853.2(RPGR):c.2937_2938del (p.Glu980fs) rs2067138439
NM_001034853.2(RPGR):c.2964_2965del (p.Glu989fs) rs1555961440
NM_001034853.2(RPGR):c.2965G>T (p.Glu989Ter)
NM_001034853.2(RPGR):c.2966del (p.Glu989fs) rs2067134850
NM_001034853.2(RPGR):c.2997_2998del (p.Glu1000fs)
NM_001034853.2(RPGR):c.3027_3028del (p.Glu1010fs) rs1569235565
NM_001034853.2(RPGR):c.3034del (p.Glu1012fs) rs2067128124
NM_001034853.2(RPGR):c.3039_3040del (p.Glu1014fs) rs2067127718
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3050_3051del (p.Glu1017fs)
NM_001034853.2(RPGR):c.3070G>T (p.Glu1024Ter) rs1799325384
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3081_3082del (p.Glu1028fs) rs1601918140
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs) rs606231181
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3150_3151del (p.Glu1051fs) rs2147190794
NM_001034853.2(RPGR):c.3178_3179del (p.Glu1060fs) rs771214648
NM_001034853.2(RPGR):c.3197_3198del (p.Glu1066fs)
NM_001034853.2(RPGR):c.3212_3218del (p.Glu1071fs) rs2147190470
NM_001034853.2(RPGR):c.3308_3309del (p.Tyr1103fs)
NM_001034853.2(RPGR):c.3317dup (p.Ser1107fs) rs886041376
NM_001034853.2(RPGR):c.372del (p.Glu125fs) rs62638642
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001034853.2(RPGR):c.379del (p.Arg127fs) rs2067877633
NM_001034853.2(RPGR):c.389T>G (p.Phe130Cys) rs62638644
NM_001034853.2(RPGR):c.469+1G>T rs62638646
NM_001034853.2(RPGR):c.486del (p.Phe162fs) rs281865297
NM_001034853.2(RPGR):c.505G>T (p.Glu169Ter) rs369037463
NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg) rs137852550
NM_001034853.2(RPGR):c.619+1G>C
NM_001034853.2(RPGR):c.642_656delinsC (p.Gly215fs) rs796065331
NM_001034853.2(RPGR):c.706C>T (p.Gln236Ter) rs62638652
NM_001034853.2(RPGR):c.706del (p.Gln236fs) rs1601961173
NM_001034853.2(RPGR):c.779-1G>A rs62638655
NM_001034853.2(RPGR):c.779-5T>G rs2067565504
NM_001034853.2(RPGR):c.81del (p.Gly28fs)
NM_001034853.2(RPGR):c.869del (p.Glu290fs) rs62640588
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001034853.2(RPGR):c.935-2A>G rs2067498092
NM_001034853.2(RPGR):c.980T>G (p.Leu327Ter) rs62640594

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.