ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa 25

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter) rs143994166 0.00064
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190 0.00006
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001142800.2(EYS):c.967G>T (p.Gly323Ter) rs746499646 0.00004
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.3266del (p.Met1089fs) rs1329066633 0.00003
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 0.00003
NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro) rs1186771860 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_001142800.2(EYS):c.863-2A>C rs761229979 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.1766+1G>T rs776204925 0.00002
NM_001142800.2(EYS):c.32dup (p.Met12fs) rs779372264 0.00002
NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val) rs868349465 0.00002
NM_001142800.2(EYS):c.6192-1G>T rs570020451 0.00002
NM_001142800.2(EYS):c.78_79dup (p.Gln27fs) rs1352380841 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter) rs527236067 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001142800.2(EYS):c.1056+3A>C rs747923761 0.00001
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.174G>A (p.Trp58Ter) rs1177052380 0.00001
NM_001142800.2(EYS):c.2641+2T>C rs960578029 0.00001
NM_001142800.2(EYS):c.2964C>G (p.Tyr988Ter) rs1245121527 0.00001
NM_001142800.2(EYS):c.3165-1G>A rs1349089552 0.00001
NM_001142800.2(EYS):c.3970del (p.Leu1324fs) rs1431710414 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter) rs1305702728 0.00001
NM_001142800.2(EYS):c.5511G>A (p.Trp1837Ter) rs745574120 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.6079-3_6079-2del rs1491200209 0.00001
NM_001142800.2(EYS):c.6191+1G>A rs1048032321 0.00001
NM_001142800.2(EYS):c.634C>T (p.Gln212Ter) rs371915861 0.00001
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.6623G>A (p.Gly2208Glu) rs1197105310 0.00001
NM_001142800.2(EYS):c.684C>A (p.Cys228Ter) rs1312069480 0.00001
NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter) rs1060499783 0.00001
NM_001142800.2(EYS):c.7842C>A (p.Cys2614Ter) rs374494800 0.00001
NM_001142800.2(EYS):c.7970del (p.Asp2657fs) rs1477098845 0.00001
NM_001142800.2(EYS):c.8143C>T (p.Arg2715Ter) rs1299355731 0.00001
NM_001142800.2(EYS):c.8168del (p.Gln2723fs) rs1168101857 0.00001
NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter) rs1768381543 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
GRCh38/hg38 6q12(chr6:65331371-65405465)x1
NM_001142800.2(EYS):c.-40_3dup (p.Thr2fs)
NM_001142800.2(EYS):c.110C>A (p.Ser37Ter)
NM_001142800.2(EYS):c.1122T>A (p.Cys374Ter)
NM_001142800.2(EYS):c.1123G>T (p.Glu375Ter)
NM_001142800.2(EYS):c.117T>A (p.Tyr39Ter)
NM_001142800.2(EYS):c.1184+1G>T
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1234del (p.Cys412fs) rs1765726534
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1300-3_1300-2inv
NM_001142800.2(EYS):c.1328dup (p.Asn443fs) rs1582176424
NM_001142800.2(EYS):c.1335T>A (p.Cys445Ter)
NM_001142800.2(EYS):c.1338G>A (p.Trp446Ter)
NM_001142800.2(EYS):c.1356C>G (p.Tyr452Ter)
NM_001142800.2(EYS):c.1436_1437del (p.Tyr479fs)
NM_001142800.2(EYS):c.1460-2A>C
NM_001142800.2(EYS):c.1479C>A (p.Cys493Ter) rs774464019
NM_001142800.2(EYS):c.1482dup (p.Gly495fs)
NM_001142800.2(EYS):c.1505_1506insGA (p.Phe502fs)
NM_001142800.2(EYS):c.1521C>A (p.Cys507Ter) rs1416709406
NM_001142800.2(EYS):c.1527del (p.Asp510fs) rs2150319911
NM_001142800.2(EYS):c.1599+1G>T rs2150319815
NM_001142800.2(EYS):c.1600-1G>T
NM_001142800.2(EYS):c.1603del (p.Cys535fs) rs2150313808
NM_001142800.2(EYS):c.160_162delinsAA (p.Tyr54fs)
NM_001142800.2(EYS):c.1637_1640del (p.Asp546fs) rs2150313758
NM_001142800.2(EYS):c.1711C>T (p.Gln571Ter)
NM_001142800.2(EYS):c.1766+1G>A
NM_001142800.2(EYS):c.1770_1782del (p.Arg589_Cys590insTer)
NM_001142800.2(EYS):c.1809_1812delinsTAA (p.Asn604fs)
NM_001142800.2(EYS):c.1867del (p.Leu623fs)
NM_001142800.2(EYS):c.1961dup (p.Asn654fs) rs749103801
NM_001142800.2(EYS):c.2011_2012del (p.Pro671fs)
NM_001142800.2(EYS):c.2021_2023+1dup rs2150286198
NM_001142800.2(EYS):c.2023+1G>A rs980430860
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.2041G>T (p.Asp681Tyr)
NM_001142800.2(EYS):c.2068del (p.Cys690fs)
NM_001142800.2(EYS):c.2138-2A>G
NM_001142800.2(EYS):c.2380del (p.Arg794fs)
NM_001142800.2(EYS):c.2381+1G>A rs1769267226
NM_001142800.2(EYS):c.2381+1G>C
NM_001142800.2(EYS):c.2382-1G>A
NM_001142800.2(EYS):c.251T>G (p.Leu84Ter)
NM_001142800.2(EYS):c.2527G>A (p.Gly843Arg) rs2150076826
NM_001142800.2(EYS):c.253G>T (p.Gly85Ter)
NM_001142800.2(EYS):c.2579_2580delinsAA (p.Cys860Ter)
NM_001142800.2(EYS):c.2623dup (p.His875fs)
NM_001142800.2(EYS):c.2652dup (p.Lys885Ter) rs1767699695
NM_001142800.2(EYS):c.2704dup (p.Tyr902fs)
NM_001142800.2(EYS):c.2715_2716del (p.Cys905_Glu906delinsTer) rs2150071769
NM_001142800.2(EYS):c.2716G>T (p.Glu906Ter)
NM_001142800.2(EYS):c.2739-1G>A rs943468139
NM_001142800.2(EYS):c.2739-1G>T rs943468139
NM_001142800.2(EYS):c.2739del
NM_001142800.2(EYS):c.2791_2794delinsTTTTGCAAG (p.Glu931fs)
NM_001142800.2(EYS):c.2847-2A>G
NM_001142800.2(EYS):c.2854dup (p.Cys952fs) rs779877426
NM_001142800.2(EYS):c.289C>T (p.Gln97Ter) rs1766202141
NM_001142800.2(EYS):c.2949del (p.Val982_Tyr983insTer)
NM_001142800.2(EYS):c.2992+1G>A
NM_001142800.2(EYS):c.2993-1G>A
NM_001142800.2(EYS):c.2993-2A>G rs2150022860
NM_001142800.2(EYS):c.3003_3004del (p.Cys1001_Glu1002delinsTer) rs1764940309
NM_001142800.2(EYS):c.3106G>T (p.Gly1036Ter)
NM_001142800.2(EYS):c.3143C>G (p.Ser1048Ter)
NM_001142800.2(EYS):c.3153del (p.Leu1052fs) rs1764934644
NM_001142800.2(EYS):c.315_316delinsA (p.Asn105fs)
NM_001142800.2(EYS):c.3178_3179del (p.Leu1059_Ile1060insTer)
NM_001142800.2(EYS):c.3244-1G>C rs2150016293
NM_001142800.2(EYS):c.3298G>T (p.Gly1100Ter)
NM_001142800.2(EYS):c.3349dup (p.Ser1117fs)
NM_001142800.2(EYS):c.342T>A (p.Cys114Ter) rs1418930514
NM_001142800.2(EYS):c.3490G>T (p.Glu1164Ter) rs2149856835
NM_001142800.2(EYS):c.34_35del (p.Met12fs) rs2127271977
NM_001142800.2(EYS):c.3510T>A (p.Cys1170Ter)
NM_001142800.2(EYS):c.3561C>A (p.Cys1187Ter) rs1767601438
NM_001142800.2(EYS):c.3567del (p.Gly1190fs) rs1767601116
NM_001142800.2(EYS):c.3568+1G>A rs1767600988
NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter) rs1297699863
NM_001142800.2(EYS):c.3618_3619del (p.Val1208fs)
NM_001142800.2(EYS):c.3699del (p.Leu1234fs) rs1318739667
NM_001142800.2(EYS):c.3768_3769dup (p.Ser1257fs) rs2149833352
NM_001142800.2(EYS):c.3789dup (p.Pro1264fs)
NM_001142800.2(EYS):c.3862dup (p.Tyr1288fs) rs2149833264
NM_001142800.2(EYS):c.3874C>T (p.Gln1292Ter)
NM_001142800.2(EYS):c.3886C>T (p.Gln1296Ter)
NM_001142800.2(EYS):c.3938T>A (p.Leu1313Ter) rs2149832585
NM_001142800.2(EYS):c.3951_3952del (p.Pro1318fs) rs1270740001
NM_001142800.2(EYS):c.4011_4012del (p.His1337fs) rs2149832523
NM_001142800.2(EYS):c.4026del (p.Ala1343fs)
NM_001142800.2(EYS):c.4152dup (p.Pro1385fs) rs1185686653
NM_001142800.2(EYS):c.4154_4155del (p.Pro1385fs) rs1766416713
NM_001142800.2(EYS):c.4306dup (p.Ile1436fs)
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4436C>A (p.Ser1479Ter)
NM_001142800.2(EYS):c.4455_4458del (p.Arg1485fs)
NM_001142800.2(EYS):c.449del (p.Thr150fs)
NM_001142800.2(EYS):c.4523T>G (p.Leu1508Ter)
NM_001142800.2(EYS):c.4532C>G (p.Ser1511Ter) rs2149832027
NM_001142800.2(EYS):c.4610_4611del (p.Arg1537fs) rs886042613
NM_001142800.2(EYS):c.4655T>G (p.Leu1552Ter) rs1054515897
NM_001142800.2(EYS):c.4665_4666del (p.Ala1557fs)
NM_001142800.2(EYS):c.4717C>T (p.Gln1573Ter)
NM_001142800.2(EYS):c.4791T>A (p.Tyr1597Ter)
NM_001142800.2(EYS):c.4901dup (p.Ser1635fs)
NM_001142800.2(EYS):c.492_499del (p.Leu165fs) rs1270977202
NM_001142800.2(EYS):c.4939G>T (p.Glu1647Ter)
NM_001142800.2(EYS):c.4976T>G (p.Leu1659Ter)
NM_001142800.2(EYS):c.4997del (p.Leu1666fs)
NM_001142800.2(EYS):c.5071G>T (p.Glu1691Ter)
NM_001142800.2(EYS):c.5227del (p.Ser1743fs)
NM_001142800.2(EYS):c.5238del (p.Phe1746fs)
NM_001142800.2(EYS):c.5254del (p.Ile1752fs)
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) rs761760327
NM_001142800.2(EYS):c.5487dup (p.Glu1830fs)
NM_001142800.2(EYS):c.5530_5534dup (p.Val1846fs) rs1405016852
NM_001142800.2(EYS):c.5626C>T (p.Gln1876Ter) rs2149830904
NM_001142800.2(EYS):c.5644+1G>A
NM_001142800.2(EYS):c.5645-1G>A
NM_001142800.2(EYS):c.5677_5681del (p.Tyr1893fs)
NM_001142800.2(EYS):c.5734C>T (p.Gln1912Ter)
NM_001142800.2(EYS):c.5786del (p.Asn1928_Leu1929insTer) rs2150466350
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.5814del (p.Phe1938fs)
NM_001142800.2(EYS):c.5841del (p.Tyr1949fs)
NM_001142800.2(EYS):c.5928-1G>A
NM_001142800.2(EYS):c.6036_6042del (p.Val2013fs)
NM_001142800.2(EYS):c.6078+1G>A
NM_001142800.2(EYS):c.6138G>A (p.Trp2046Ter)
NM_001142800.2(EYS):c.6191+1del
NM_001142800.2(EYS):c.6192-1G>A
NM_001142800.2(EYS):c.6196del (p.Gln2066fs)
NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs) rs1554220416
NM_001142800.2(EYS):c.6270G>A (p.Trp2090Ter)
NM_001142800.2(EYS):c.6286del (p.Ser2096fs) rs2150338012
NM_001142800.2(EYS):c.6302_6303del (p.Ser2101fs)
NM_001142800.2(EYS):c.6313C>T (p.Gln2105Ter) rs1188834464
NM_001142800.2(EYS):c.637_643del (p.Glu213fs) rs1285201633
NM_001142800.2(EYS):c.6415T>C (p.Cys2139Arg) rs1378663182
NM_001142800.2(EYS):c.6485dup (p.Phe2163fs)
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6595C>T (p.Gln2199Ter)
NM_001142800.2(EYS):c.6725+1G>T
NM_001142800.2(EYS):c.6726-12_6735del
NM_001142800.2(EYS):c.6799C>T (p.Gln2267Ter)
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.6825dup (p.Ala2276fs)
NM_001142800.2(EYS):c.6834+2T>C
NM_001142800.2(EYS):c.6835-2A>T
NM_001142800.2(EYS):c.7017T>A (p.Cys2339Ter)
NM_001142800.2(EYS):c.7115T>A (p.Phe2372Tyr)
NM_001142800.2(EYS):c.7126G>T (p.Glu2376Ter)
NM_001142800.2(EYS):c.7178del (p.Asp2393fs)
NM_001142800.2(EYS):c.7196del (p.Pro2399fs) rs2149709684
NM_001142800.2(EYS):c.7228_7228+1delinsTA rs1772614934
NM_001142800.2(EYS):c.7229-1G>A rs1554171033
NM_001142800.2(EYS):c.7296T>A (p.Tyr2432Ter)
NM_001142800.2(EYS):c.7328A>C (p.Glu2443Ala)
NM_001142800.2(EYS):c.7331T>A (p.Phe2444Tyr)
NM_001142800.2(EYS):c.7372C>T (p.Gln2458Ter)
NM_001142800.2(EYS):c.748+1G>A rs1766169568
NM_001142800.2(EYS):c.749-1G>A rs368159852
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.749-2A>G rs1766011028
NM_001142800.2(EYS):c.7495dup (p.Ser2499fs)
NM_001142800.2(EYS):c.7540_7541del (p.Val2514fs) rs2149670871
NM_001142800.2(EYS):c.7797_7800del (p.His2599fs) rs2149664330
NM_001142800.2(EYS):c.7921A>T (p.Lys2641Ter)
NM_001142800.2(EYS):c.7943_7944del (p.Thr2648fs) rs1278985995
NM_001142800.2(EYS):c.803del (p.Gly268fs) rs1766006937
NM_001142800.2(EYS):c.8071+2del
NM_001142800.2(EYS):c.8072-2A>G
NM_001142800.2(EYS):c.8098A>T (p.Arg2700Ter)
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8150dup (p.Thr2718fs)
NM_001142800.2(EYS):c.8155_8156del (p.His2719fs) rs764229134
NM_001142800.2(EYS):c.8243del (p.Leu2748fs) rs1240944758
NM_001142800.2(EYS):c.8254_8255del (p.Leu2752fs)
NM_001142800.2(EYS):c.830del (p.Ser277fs)
NM_001142800.2(EYS):c.8412_8413insCA (p.Thr2805fs)
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
NM_001142800.2(EYS):c.8543del (p.Ile2848fs) rs2149625125
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs) rs1216993077
NM_001142800.2(EYS):c.8616_8617del (p.Asp2873fs) rs2149625000
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)
NM_001142800.2(EYS):c.8734C>T (p.Gln2912Ter) rs1561993938
NM_001142800.2(EYS):c.8751_8754del (p.Asn2918fs)
NM_001142800.2(EYS):c.8780_8783del (p.Cys2927fs)
NM_001142800.2(EYS):c.8830del (p.Val2944fs) rs776526721
NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter)
NM_001142800.2(EYS):c.8892_8896del (p.Tyr2964_Lys2966delinsTer) rs1768367412
NM_001142800.2(EYS):c.8945_8946delinsATTTCAC (p.Ile2982fs)
NM_001142800.2(EYS):c.8993T>C (p.Met2998Thr) rs768837125
NM_001142800.2(EYS):c.9010_9019del (p.Glu3004fs)
NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)
NM_001142800.2(EYS):c.9067_9085del (p.Asn3023fs)
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9086_9087del (p.Ser3029fs)
NM_001142800.2(EYS):c.9096_9102del (p.Met3032fs)
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) rs772549804
NM_001142800.2(EYS):c.9159_9160del (p.Gln3053fs) rs1486663077
NM_001142800.2(EYS):c.9163_9164del (p.Leu3055fs)
NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs) rs1165454778
NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)
NM_001142800.2(EYS):c.9234_9249dup (p.Ile3084delinsSerLysLeuTer) rs1768348055
NM_001142800.2(EYS):c.9258T>A (p.Tyr3086Ter) rs1190932109
NM_001142800.2(EYS):c.927C>A (p.Cys309Ter)
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001142800.2(EYS):c.9301C>T (p.Gln3101Ter)
NM_001142800.2(EYS):c.9302_9303del (p.Gln3101fs)
NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs)
NM_001142800.2(EYS):c.9368del (p.Asn3123fs) rs1768339358
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs) rs1166245419
NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs)
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs) rs1270198704
NM_001142800.2(EYS):c.95G>A (p.Trp32Ter)
NM_001142800.2(EYS):c.988G>T (p.Glu330Ter)

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