ClinVar Miner

List of variants reported as likely pathogenic for Retinitis pigmentosa

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 646
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe) rs149451001 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_206933.4(USH2A):c.13396C>T (p.Pro4466Ser) rs138398671 0.00026
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_018191.4(RCBTB1):c.973C>T (p.His325Tyr) rs200826424 0.00016
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys) rs111033258 0.00016
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207 0.00015
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter) rs151141842 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_004928.3(CFAP410):c.33_34insAGCTGCACAGCGTGCA (p.Ala12fs) rs748531024 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814 0.00008
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) rs752683070 0.00007
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp) rs104894178 0.00007
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_206933.4(USH2A):c.1036A>C (p.Asn346His) rs369522997 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) rs137883686 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001142800.2(EYS):c.3878-2A>G rs752930400 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_016247.4(IMPG2):c.3023-6_3030dup rs754995805 0.00004
NM_016247.4(IMPG2):c.370T>C (p.Phe124Leu) rs201893545 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.754G>T (p.Gly252Cys) rs777682016 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000326.5(RLBP1):c.677T>A (p.Met226Lys) rs137853291 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr) rs770111708 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752 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_001354768.3(NRL):c.23del (p.Leu8fs) rs527236087 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_001793.6(CDH3):c.2200G>A (p.Val734Met) rs775541873 0.00003
NM_006343.3(MERTK):c.2302G>A (p.Ala768Thr) rs878853353 0.00003
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) rs782103396 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) rs376894444 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_033100.4(CDHR1):c.1A>G (p.Met1Val) rs794726954 0.00003
NM_205861.3(DHDDS):c.292C>T (p.Arg98Trp) rs754564043 0.00003
NM_206933.4(USH2A):c.12268C>A (p.Pro4090Thr) rs780893919 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.14350G>A (p.Glu4784Lys) rs746837034 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_206933.4(USH2A):c.9571-2A>G rs751111524 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1A>G (p.Met1Val) rs781003757 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000329.3(RPE65):c.74C>T (p.Pro25Leu) rs199683808 0.00002
NM_000350.3(ABCA4):c.3364G>A (p.Glu1122Lys) rs61751399 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.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile) rs774229391 0.00002
NM_001278293.3(ARL6):c.281T>C (p.Ile94Thr) rs771054395 0.00002
NM_001297.5(CNGB1):c.217+5G>C rs527236060 0.00002
NM_001297.5(CNGB1):c.2185C>T (p.Arg729Ter) rs1352458826 0.00002
NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn) rs1085307806 0.00002
NM_005530.3(IDH3A):c.911C>A (p.Pro304His) rs756712426 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_018191.4(RCBTB1):c.919G>A (p.Val307Met) rs368217569 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.2330G>A (p.Cys777Tyr) rs192119790 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_000283.4(PDE6B):c.1108-2A>G rs1316718953 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000322.5(PRPH2):c.554T>C (p.Leu185Pro) rs121918563 0.00001
NM_000322.5(PRPH2):c.647C>T (p.Pro216Leu) rs61755806 0.00001
NM_000322.5(PRPH2):c.659G>A (p.Arg220Gln) rs61755810 0.00001
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro) rs62645946 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.5018+5G>A rs1553188588 0.00001
NM_000350.3(ABCA4):c.5929G>A (p.Gly1977Ser) rs61750639 0.00001
NM_000440.3(PDE6A):c.1620+1G>A rs781377291 0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp) rs144484128 0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp) rs759589388 0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000554.6(CRX):c.897G>C (p.Leu299Phe) rs527236063 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001077620.3(PRCD):c.74+1G>A rs779066277 0.00001
NM_001134831.2(AHI1):c.2569_2570insAG (p.Phe857Ter) rs773278338 0.00001
NM_001142800.2(EYS):c.1056+1G>A rs1195522061 0.00001
NM_001142800.2(EYS):c.1057-1G>A rs776564041 0.00001
NM_001142800.2(EYS):c.3164+1G>A rs1029564423 0.00001
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180 0.00001
NM_001142800.2(EYS):c.6571+1G>A rs1193854376 0.00001
NM_001142800.2(EYS):c.8012T>A (p.Leu2671Ter) rs527236076 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn) rs1211856182 0.00001
NM_001242957.3(MAK):c.101+1G>A rs1300819259 0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) rs186643840 0.00001
NM_001242957.3(MAK):c.496C>T (p.Arg166Cys) rs527236081 0.00001
NM_001242957.3(MAK):c.553G>A (p.Ala185Thr) rs527236080 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) rs775887058 0.00001
NM_001297.5(CNGB1):c.290+2T>C rs1429797650 0.00001
NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser) rs527236057 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 0.00001
NM_014249.4(NR2E3):c.311G>A (p.Arg104Gln) rs766096417 0.00001
NM_015102.5(NPHP4):c.2598_2607dup (p.Arg870fs) rs752910449 0.00001
NM_018191.4(RCBTB1):c.930G>T (p.Trp310Cys) rs772592456 0.00001
NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys) rs1594214013 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_177965.4(CFAP418):c.529C>T (p.Arg177Trp) rs387907136 0.00001
NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter) rs527236107 0.00001
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr) rs776788104 0.00001
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter) rs988540767 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_201548.5(CERKL):c.677+547G>C rs1044562973 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544 0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072 0.00001
NM_206933.4(USH2A):c.13604T>G (p.Met4535Arg) rs750418422 0.00001
NM_206933.4(USH2A):c.14134-3169A>G rs998302546 0.00001
NM_206933.4(USH2A):c.1478A>G (p.Tyr493Cys) rs756570931 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788 0.00001
NM_206933.4(USH2A):c.2296T>C (p.Cys766Arg) rs368687374 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.6050-1G>A rs1035024403 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.7067A>G (p.Asn2356Ser) rs756203141 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
NC_000006.11:g.65133931_65156120dup
NC_000015.10:g.89206897_89214258del
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000260.4(MYO7A):c.1667G>T (p.Gly556Val) rs527236085
NM_000260.4(MYO7A):c.785T>G (p.Met262Arg) rs1952576456
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) rs1591277785
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1654del (p.Arg552fs) rs1577296602
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.207dup (p.Ile70fs) rs750147338
NM_000283.4(PDE6B):c.537_540del (p.Pro179_Ile180insTer) rs1470086286
NM_000283.4(PDE6B):c.993-1G>C rs527236090
NM_000322.5(PRPH2):c.389T>C (p.Leu130Pro) rs1761911206
NM_000322.5(PRPH2):c.458A>G (p.Lys153Arg) rs61755785
NM_000322.5(PRPH2):c.469G>A (p.Asp157Asn) rs61755787
NM_000322.5(PRPH2):c.518A>C (p.Asp173Ala) rs61755794
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.535T>C (p.Trp179Arg) rs61755796
NM_000322.5(PRPH2):c.594C>G (p.Ser198Arg) rs375978676
NM_000322.5(PRPH2):c.631T>C (p.Phe211Leu) rs1800116126
NM_000322.5(PRPH2):c.634A>G (p.Ser212Gly) rs61755800
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.646_649delinsGG (p.Pro216fs) rs1800115494
NM_000322.5(PRPH2):c.659G>C (p.Arg220Pro) rs61755810
NM_000322.5(PRPH2):c.664T>C (p.Cys222Arg) rs1554269053
NM_000322.5(PRPH2):c.675T>A (p.Tyr225Ter) rs1800114066
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) rs61755811
NM_000322.5(PRPH2):c.732C>G (p.Asn244Lys) rs61755816
NM_000322.5(PRPH2):c.761T>A (p.Leu254Gln) rs1800110989
NM_000322.5(PRPH2):c.860_867del (p.Gln287fs) rs1554268546
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) rs762326108
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000350.3(ABCA4):c.2915C>A (p.Thr972Asn) rs61749451
NM_000350.3(ABCA4):c.5196+3_5196+6del rs61753023
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.[1411G>A;5693G>A]
NM_000390.4(CHM):c.3G>A (p.Met1Ile) rs1603288875
NM_000440.3(PDE6A):c.1407+1G>A rs781616522
NM_000440.3(PDE6A):c.1A>G (p.Met1Val) rs976670244
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys) rs141252097
NM_000440.3(PDE6A):c.612del (p.Lys205fs) rs1265680220
NM_000440.3(PDE6A):c.627+2T>G rs1581211727
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) rs104893795
NM_000539.3(RHO):c.1040C>G (p.Pro347Arg) rs29001566
NM_000539.3(RHO):c.158C>G (p.Pro53Arg) rs28933395
NM_000539.3(RHO):c.180C>A (p.Tyr60Ter) rs527236101
NM_000539.3(RHO):c.265G>C (p.Gly89Arg) rs1578278354
NM_000539.3(RHO):c.266G>A (p.Gly89Asp) rs104893772
NM_000539.3(RHO):c.497C>T (p.Ala166Val) rs1578279746
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.511C>T (p.Pro171Ser) rs104893794
NM_000539.3(RHO):c.512C>A (p.Pro171Gln) rs2084776162
NM_000539.3(RHO):c.512C>G (p.Pro171Arg) rs2084776162
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.560G>A (p.Cys187Tyr) rs1578280588
NM_000539.3(RHO):c.568G>T (p.Asp190Tyr) rs104893779
NM_000539.3(RHO):c.800C>T (p.Pro267Leu) rs104893781
NM_000539.3(RHO):c.83A>G (p.Gln28Arg) rs1553780837
NM_000539.3(RHO):c.888G>T (p.Lys296Asn)
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) rs1578281100
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) rs1578281136
NM_000539.3(RHO):c.979_982del (p.Pro327fs) rs527236102
NM_000541.4:c.513_806del
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.448_449del (p.Ser150fs) rs1555801989
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000883.4(IMPDH1):c.402+1G>T rs1562998089
NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro) rs1057518949
NM_000883.4(IMPDH1):c.959T>C (p.Leu320Pro) rs1584728115
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_001012720.2(RGR):c.820del (p.Arg274fs) rs1589337745
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001029883.3(PCARE):c.1763dup (p.Pro588_Glu589insTer) rs763206332
NM_001029883.3(PCARE):c.2126del (p.Gly709fs) rs527236055
NM_001029883.3(PCARE):c.2459_2460insA (p.Ser820fs) rs1667491330
NM_001029883.3(PCARE):c.2822G>A (p.Trp941Ter) rs1667480949
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs) rs1572826522
NM_001029883.3(PCARE):c.2988dup (p.Thr997fs) rs527236056
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001031710.3(KLHL7):c.458C>T (p.Ala153Val) rs137853113
NM_001034853.2(RPGR):c.1084_1087dup (p.Val363fs) rs527236109
NM_001034853.2(RPGR):c.114dup (p.His39fs) rs2147291671
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs) rs1601943227
NM_001034853.2(RPGR):c.1237A>T (p.Arg413Ter) rs771039023
NM_001034853.2(RPGR):c.126T>G (p.Cys42Trp) rs1555968526
NM_001034853.2(RPGR):c.1393del (p.Leu465fs) rs1555964122
NM_001034853.2(RPGR):c.1429G>T (p.Glu477Ter) rs1555962965
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1582_1585del (p.Thr528fs) rs2147203790
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_001034853.2(RPGR):c.1894_1897del (p.Asp632fs) rs1555961964
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp) rs1601982532
NM_001034853.2(RPGR):c.1981G>T (p.Glu661Ter) rs527236108
NM_001034853.2(RPGR):c.202G>C (p.Gly68Arg) rs1601982516
NM_001034853.2(RPGR):c.2064del (p.Arg688fs)
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.2250_2251del (p.Lys751fs) rs1555961849
NM_001034853.2(RPGR):c.2296_2299del (p.Gly766fs) rs2067186632
NM_001034853.2(RPGR):c.2357_2375del (p.Lys786fs)
NM_001034853.2(RPGR):c.2383G>T (p.Glu795Ter) rs2067183876
NM_001034853.2(RPGR):c.2384del (p.Glu795fs) rs1569237206
NM_001034853.2(RPGR):c.2405_2406del (p.Glu802fs) rs398122960
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.2567_2568del (p.Gly856fs)
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.280T>C (p.Cys94Arg) rs1601978925
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.310+1_310+2insGGTGCTCAACCT rs1601978817
NM_001034853.2(RPGR):c.469+1G>A rs62638646
NM_001034853.2(RPGR):c.494G>A (p.Gly165Asp) rs1601972449
NM_001034853.2(RPGR):c.779-3C>A rs1555965712
NM_001034853.2(RPGR):c.823G>A (p.Gly275Ser) rs62642057
NM_001034853.2(RPGR):c.894_895del (p.Ser298fs) rs527236111
NM_001034853.2(RPGR):c.914dup (p.Asn305fs) rs1555965653
NM_001034853.2(RPGR):c.922G>C (p.Ala308Pro) rs527236112
NM_001042432.2(CLN3):c.461-279_677+384del rs1555468632
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe) rs1401497994
NM_001042432.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2429C>T (p.Pro810Leu) rs1554338016
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.113C>A (p.Ser38Ter) rs1288767318
NM_001142800.2(EYS):c.1193C>G (p.Ser398Ter) rs866804139
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.1345A>T (p.Lys449Ter) rs527236077
NM_001142800.2(EYS):c.1750G>T (p.Glu584Ter) rs527236072
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter) rs794727120
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs) rs758506938
NM_001142800.2(EYS):c.350del (p.Asn117fs) rs1582376609
NM_001142800.2(EYS):c.3775C>T (p.Gln1259Ter) rs1291867456
NM_001142800.2(EYS):c.4100C>A (p.Ser1367Ter)
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4387del (p.Arg1463fs) rs527236075
NM_001142800.2(EYS):c.4395_4402dup (p.Asp1468fs) rs527236073
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.5014C>T (p.Gln1672Ter) rs527236074
NM_001142800.2(EYS):c.5202_5203del (p.Phe1735fs) rs527236071
NM_001142800.2(EYS):c.525_527del (p.Glu176del) rs780433094
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs) rs761760327
NM_001142800.2(EYS):c.5317_5342delinsTA (p.Asn1773_Val1781delinsTer) rs1554183440
NM_001142800.2(EYS):c.5408C>G (p.Ser1803Ter) rs1554183432
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs) rs2149830976
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs) rs2149830970
NM_001142800.2(EYS):c.5928-3_5928-1del rs1554152094
NM_001142800.2(EYS):c.6191+2T>C rs1769469813
NM_001142800.2(EYS):c.6502G>T (p.Glu2168Ter) rs1554204963
NM_001142800.2(EYS):c.6545del (p.Asn2182fs) rs1346842287
NM_001142800.2(EYS):c.6812_6813del (p.Thr2271fs) rs2149802267
NM_001142800.2(EYS):c.6937C>T (p.Gln2313Ter) rs1554194404
NM_001142800.2(EYS):c.7048del (p.Cys2350fs) rs527236069
NM_001142800.2(EYS):c.7055+1G>A rs1582079626
NM_001142800.2(EYS):c.7228G>A (p.Ala2410Thr)
NM_001142800.2(EYS):c.7412-1G>C rs1167742176
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.7694del (p.Asn2565fs) rs527236078
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8376_8379dup (p.Glu2794fs) rs527236070
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs) rs1216993077
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs) rs2149624980
NM_001142800.2(EYS):c.8678del (p.Asn2893fs) rs1554163929
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter) rs777482895
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs) rs1427770112
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu) rs772549804
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs) rs869312188
NM_001142800.2(EYS):c.9329G>C (p.Gly3110Ala) rs1582139184
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs) rs771640639
NM_001142800.2:c.6425-7585_7056-7439dup
NM_001201543.2(FAM161A):c.1420del (p.Ala474fs)
NM_001201543.2(FAM161A):c.1751G>A (p.Arg584Lys) rs1572875669
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
NM_001201543.2(FAM161A):c.678_681del (p.Lys227fs) rs1553354861
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter) rs2105111295
NM_001201543.2(FAM161A):c.782del (p.Asp261fs) rs1178184685
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs) rs1196153507
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter) rs1581697849
NM_001242957.3(MAK):c.340dup (p.Ala114fs) rs527236082
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
NM_001256789.3(CACNA1F):c.818-1G>A rs1602653742
NM_001297.5(CNGB1):c.1345del (p.Ala449fs) rs1596996962
NM_001297.5(CNGB1):c.2271del (p.Asn758fs) rs1596974169
NM_001297.5(CNGB1):c.2524dup (p.Thr842fs) rs527236061
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2567_2568del (p.Leu855_Phe856insTer)
NM_001297.5(CNGB1):c.262C>T (p.Gln88Ter) rs878853394
NM_001297.5(CNGB1):c.2676C>A (p.Tyr892Ter) rs1555488573
NM_001297.5(CNGB1):c.2980G>T (p.Glu994Ter) rs1555488069
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) rs1365926616
NM_001297.5(CNGB1):c.3139_3142dup (p.Ala1048fs) rs756806434
NM_001297.5(CNGB1):c.60del (p.Met21fs) rs1962422577
NM_001297.5(CNGB1):c.664C>T (p.Gln222Ter) rs750620302
NM_001297.5(CNGB1):c.761+2T>A rs1555493707
NM_001297.5:c.1536-3071_2634+31dup
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr) rs559155109
NM_001378454.1(ALMS1):c.11646_11649dup (p.Asn3884fs) rs2104189255
NM_001378454.1(ALMS1):c.4147dup (p.Gln1383fs) rs1572934951
NM_001378454.1(ALMS1):c.833_834del (p.Phe278fs) rs1671340542
NM_001379270.1(CNGA1):c.1619T>G (p.Phe540Cys) rs1578059695
NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs) rs768694789
NM_001379270.1(CNGA1):c.179del (p.Gly60fs) rs527236058
NM_001379270.1(CNGA1):c.234C>A (p.Tyr78Ter) rs1436425494
NM_001379270.1(CNGA1):c.546-1G>C rs1037963003
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001379270.1(CNGA1):c.977A>G (p.Asp326Gly) rs527236059
NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys) rs104893967
NM_001384910.1(GUCA1A):c.431A>T (p.Asp144Val) rs1768035083
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe) rs1051579797
NM_001793.6(CDH3):c.3G>A (p.Met1Ile) rs1238109100
NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys) rs763272975
NM_003322.6(TULP1):c.1113-9_1113delinsCATC rs2150924300
NM_003322.6(TULP1):c.361G>T (p.Glu121Ter) rs1581744084
NM_003322.6(TULP1):c.415dup (p.Ile139fs)
NM_003322.6(TULP1):c.742_745del (p.Glu248fs) rs1761147951
NM_004183.4(BEST1):c.287_298del (p.Gln96_Asn99del) rs1555099048
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) rs527236079
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs) rs1578860254
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs) rs1246790145
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) rs201644238
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.630+2T>A rs1578097528
NM_006269.2(RP1):c.2026del (p.Ser676fs) rs1585563087
NM_006269.2(RP1):c.2032C>T (p.Gln678Ter) rs878853328
NM_006269.2(RP1):c.2041dup (p.Ile681fs) rs1174193938
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2083del (p.Ile695fs) rs1554519538
NM_006269.2(RP1):c.2115del (p.Gly706fs) rs1585563204
NM_006269.2(RP1):c.2206dup (p.Thr736fs) rs1554519554
NM_006269.2(RP1):c.2219C>G (p.Ser740Ter) rs1554519555
NM_006269.2(RP1):c.2321del (p.Leu773_Leu774insTer) rs1554519577
NM_006269.2(RP1):c.2596_2597del (p.Leu866fs) rs1554519635
NM_006269.2(RP1):c.2656C>T (p.Gln886Ter) rs1554519651
NM_006269.2(RP1):c.269del (p.His90fs) rs1585557752
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter) rs879399888
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.4876G>A (p.Gly1626Arg) rs527236106
NM_006269.2(RP1):c.5883del (p.Thr1962fs) rs1554520068
NM_006269.2(RP1):c.615+1G>T rs886210482
NM_006269.2(RP1):c.650del (p.Gly217fs) rs527236105
NM_006269.2(RP1):c.830_831del (p.Ser277fs) rs1585561400
NM_006343.2(MERTK):c.62_482dup
NM_006343.3(MERTK):c.2179C>G (p.Arg727Gly) rs746238212
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2209G>T (p.Val737Phe)
NM_006343.3(MERTK):c.757+1G>A rs1573592124
NM_006343.3(MERTK):c.960+1G>A rs1573607809
NM_006445.4(PRPF8):c.4477A>G (p.Thr1493Ala) rs1479391155
NM_006445.4(PRPF8):c.5804G>A (p.Arg1935His) rs1555550617
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_006915.3(RP2):c.225del (p.Phe75fs)
NM_006915.3(RP2):c.276_277delinsA (p.Phe92fs)
NM_006915.3(RP2):c.328T>C (p.Cys110Arg) rs1602347741
NM_006915.3(RP2):c.338C>A (p.Ala113Asp) rs1556318627
NM_006915.3(RP2):c.352C>G (p.Arg118Gly) rs1556318633
NM_006915.3(RP2):c.390T>A (p.Cys130Ter) rs1602347792
NM_006915.3(RP2):c.826del (p.Asp276fs) rs1602349705
NM_012469.4(PRPF6):c.550G>C (p.Asp184His) rs527236096
NM_014003.4(DHX38):c.2329C>T (p.Pro777Ser) rs1597445687
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu) rs933842186
NM_014014.5(SNRNP200):c.1704A>C (p.Glu568Asp) rs2104355428
NM_014014.5(SNRNP200):c.1871G>A (p.Arg624Lys) rs527236115
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.2042G>T (p.Arg681Leu) rs527236113
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu) rs1477839027
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014249.4(NR2E3):c.316AAG[1] (p.Lys107del)
NM_014249.4(NR2E3):c.352G>A (p.Val118Met) rs776270511
NM_014249.4(NR2E3):c.554del (p.Lys185fs) rs1595956455
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter) rs1595956595
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014714.4(IFT140):c.1155+1G>A
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_015102.5(NPHP4):c.770_777del (p.Glu257fs) rs2102003035
NM_015629.3:c.(?_-1)_(*1_?)del
NM_015629.3:c.(?_-1)_(238+1_239-1)del
NM_015629.4(PRPF31):c.-9+1G>T
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter) rs868538598
NM_015629.4(PRPF31):c.1095del (p.Leu366fs) rs2146445593
NM_015629.4(PRPF31):c.1129del (p.Arg377fs) rs1555794302
NM_015629.4(PRPF31):c.1147-153_1196del rs1555794509
NM_015629.4(PRPF31):c.1165C>T (p.Gln389Ter) rs2146449862
NM_015629.4(PRPF31):c.1190dup (p.His398fs) rs1600360338
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer) rs1600360654
NM_015629.4(PRPF31):c.1A>T (p.Met1Leu) rs1555791188
NM_015629.4(PRPF31):c.239-2A>G rs1600334904
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile) rs1600324262
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.535delinsGG (p.Leu179fs) rs2146420485
NM_015629.4(PRPF31):c.562G>T (p.Glu188Ter) rs527236094
NM_015629.4(PRPF31):c.615C>G (p.Tyr205Ter) rs144738703
NM_015629.4(PRPF31):c.666_668del (p.Ile223del) rs1600341902
NM_015629.4(PRPF31):c.673del (p.Ala225fs) rs1600341931
NM_015629.4(PRPF31):c.73_166dup (p.Asp56fs) rs2073701307
NM_015629.4(PRPF31):c.764A>T (p.Gln255Leu) rs527236095
NM_015629.4(PRPF31):c.821T>C (p.Ile274Thr) rs2073875700
NM_015629.4(PRPF31):c.838_841dup (p.Gln281fs) rs1555793207
NM_015629.4(PRPF31):c.855+1G>T rs1057520752
NM_015629.4(PRPF31):c.895T>C (p.Cys299Arg) rs2073926924
NM_015629.4(PRPF31):c.950del (p.Gly317fs) rs886041773
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter) rs1600355373
NM_016247.4(IMPG2):c.118G>T (p.Glu40Ter) rs1553687058
NM_016247.4(IMPG2):c.2426G>A (p.Trp809Ter) rs1553681348
NM_016247.4(IMPG2):c.2928del (p.Asn976fs) rs770339774
NM_018191.4(RCBTB1):c.1164G>T (p.Leu388Phe) rs879255547
NM_020366.4(RPGRIP1):c.2020C>T (p.Pro674Ser) rs1328030621
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs) rs1555302710
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_024649.5(BBS1):c.1473+2T>G rs1856699646
NM_024649.5(BBS1):c.1713del (p.Gly572fs) rs1555050487
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs) rs1581312596
NM_032119.4(ADGRV1):c.4379-1G>A rs1432643009
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter) rs1477733493
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter) rs1842216995
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) rs2140141345
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) rs1594865719
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln) rs1594866237
NM_152443.3(RDH12):c.716G>T (p.Arg239Leu) rs1239043055
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg) rs1578491064
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_174878.3(CLRN1):c.434-2A>T rs1576623563
NM_198428.3(BBS9):c.115A>G (p.Lys39Glu) rs1584179629
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg) rs866822473
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del) rs780580887
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) rs1571523755
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val) rs1664306632
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro) rs1571524269
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val) rs768905244
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter) rs1571525390
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu) rs1553260517
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys) rs574162883
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del) rs1571572235
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly) rs760544654
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201548.5(CERKL):c.1073+3_1073+6del rs1553513437
NM_201548.5(CERKL):c.1366-2A>G
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys) rs569826109
NM_201548.5(CERKL):c.420del (p.Ile141fs) rs398122962
NM_201548.5(CERKL):c.568del (p.Val190fs)
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter) rs769632183
NM_205861.3(DHDDS):c.616A>G (p.Thr206Ala) rs2124489724
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.2(USH2A):c.8682delG rs527236120
NM_206933.3(USH2A):c.[12448A>G;5012G>A]
NM_206933.4(USH2A):c.10197C>A (p.Cys3399Ter) rs1183957540
NM_206933.4(USH2A):c.10636G>T (p.Gly3546Ter) rs1553261372
NM_206933.4(USH2A):c.10733G>A (p.Ser3578Asn) rs1571681377
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.11507C>T (p.Pro3836Leu) rs1553257685
NM_206933.4(USH2A):c.11684G>A (p.Gly3895Glu) rs1472714005
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys) rs201238640
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13466G>A (p.Gly4489Asp) rs527236127
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter) rs1571945537
NM_206933.4(USH2A):c.14020A>G (p.Arg4674Gly) rs80338904
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14450G>A (p.Gly4817Glu) rs527236125
NM_206933.4(USH2A):c.1722_1723insGA (p.Cys575fs) rs527236121
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.4(USH2A):c.2168-2A>G rs993185407
NM_206933.4(USH2A):c.2810-1G>A rs778336512
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.4(USH2A):c.3086G>C (p.Gly1029Ala) rs768158580
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.487T>C (p.Cys163Arg) rs2039619957
NM_206933.4(USH2A):c.490G>T (p.Val164Phe) rs527236123
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala) rs750077857
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) rs1571941465
NM_206933.4(USH2A):c.5613_5614insTTAACTTG (p.Ala1872fs) rs2102549174
NM_206933.4(USH2A):c.6103T>G (p.Cys2035Gly) rs2030621345
NM_206933.4(USH2A):c.6399G>A (p.Trp2133Ter) rs55958016
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.7358T>A (p.Val2453Asp) rs1553274531
NM_206933.4(USH2A):c.8223+1G>C rs1553273280
NM_206933.4(USH2A):c.8846-1G>T rs771051185
NM_206933.4(USH2A):c.9259-503_9371+1650del
NM_206933.4(USH2A):c.926C>T (p.Pro309Leu) rs1359713084
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308
NM_206933.4(USH2A):c.9391dup (p.Val3131fs) rs2102796558
NM_206933.4(USH2A):c.9419T>A (p.Ile3140Asn) rs1571715796
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter) rs397518048
NM_206933.4(USH2A):c.9785G>T (p.Gly3262Val) rs1553263639
NM_207352.4(CYP4V2):c.197T>G (p.Met66Arg) rs745413794
Single allele

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