ClinVar Miner

List of variants reported by Ocular Genomics Institute, Massachusetts Eye and Ear

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ClinVar version:
Total variants: 538
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00178
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
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_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_000539.3(RHO):c.439C>T (p.Arg147Cys) rs200165530 0.00040
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_014336.5(AIPL1):c.834G>A (p.Trp278Ter) rs62637014 0.00038
NM_000350.3(ABCA4):c.5714+5G>A rs61751407 0.00036
NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) rs200692438 0.00033
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_018474.6(KIZ):c.226C>T (p.Arg76Ter) rs202210819 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_001142800.2(EYS):c.3443+1G>T rs373441420 0.00022
NM_022124.6(CDH23):c.2236G>A (p.Val746Ile) rs550384315 0.00021
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_000350.3(ABCA4):c.2473G>A (p.Gly825Arg) rs368367104 0.00019
NM_201253.3(CRB1):c.2462C>T (p.Thr821Met) rs142857810 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_177972.3(TUB):c.1270G>A (p.Glu424Lys) rs370188104 0.00017
NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) rs61750152 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_205861.3(DHDDS):c.124A>G (p.Lys42Glu) rs147394623 0.00015
NM_000329.3(RPE65):c.11+5G>A rs61751276 0.00014
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_000283.4(PDE6B):c.1540del (p.Leu514fs) rs398123298 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu) rs143344549 0.00011
NM_001297.5(CNGB1):c.413-1G>A rs189234741 0.00010
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter) rs759781200 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met) rs200632520 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_138393.4(REEP6):c.223G>A (p.Glu75Lys) rs144942685 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.2167+5G>A rs771583281 0.00009
NM_000350.3(ABCA4):c.3608-35A>G rs372604876 0.00008
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp) rs139842473 0.00008
NM_001242957.3(MAK):c.647T>C (p.Leu216Ser) rs182178532 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_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600 0.00008
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_000124.4(ERCC6):c.2125G>A (p.Val709Ile) rs369437807 0.00007
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471 0.00007
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg) rs62636264 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000350.3(ABCA4):c.302+68C>T rs761188244 0.00006
NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) rs61751402 0.00006
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter) rs121918165 0.00006
NM_001142800.2(EYS):c.2620C>T (p.Gln874Ter) rs760798455 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046 0.00006
NM_004183.4(BEST1):c.974T>C (p.Met325Thr) rs368387447 0.00006
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) rs80044281 0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_022124.6(CDH23):c.6911G>A (p.Arg2304Gln) rs201434373 0.00006
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs) rs757696771 0.00006
NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter) rs188492864 0.00006
NM_206933.4(USH2A):c.10561T>C (p.Trp3521Arg) rs111033264 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_000124.4(ERCC6):c.2989A>G (p.Lys997Glu) rs375181157 0.00005
NM_000350.3(ABCA4):c.52C>T (p.Arg18Trp) rs121909205 0.00005
NM_000539.3(RHO):c.178T>C (p.Tyr60His) rs771007146 0.00005
NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter) rs199584830 0.00005
NM_003322.6(TULP1):c.187G>T (p.Gly63Ter) rs757725696 0.00005
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928 0.00005
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_205861.3(DHDDS):c.476G>A (p.Arg159His) rs369429285 0.00005
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000350.3(ABCA4):c.4539+2028C>T rs869320785 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter) rs398123575 0.00004
NM_001378615.1(CC2D2A):c.1340C>T (p.Ala447Val) rs775138548 0.00004
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr) rs1468358104 0.00004
NM_014249.4(NR2E3):c.151G>A (p.Gly51Arg) rs544807110 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) rs201994921 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025114.4(CEP290):c.5182G>T (p.Glu1728Ter) rs370119681 0.00004
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315 0.00004
NM_152443.3(RDH12):c.524C>T (p.Ser175Leu) rs116733939 0.00004
NM_201253.3(CRB1):c.2688T>A (p.Cys896Ter) rs62636273 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13342_13347del (p.Asp4448_Ser4449del) rs771903291 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_206933.4(USH2A):c.8682-9A>G rs372347027 0.00004
NM_206933.4(USH2A):c.9570+1G>A rs760225886 0.00004
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404 0.00003
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_000843.4(GRM6):c.2240C>T (p.Ser747Leu) rs759761288 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.7228+1G>A rs758899480 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs) rs763028732 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004928.3(CFAP410):c.347C>T (p.Pro116Leu) rs922930539 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_016247.4(IMPG2):c.411G>A (p.Trp137Ter) rs764109533 0.00003
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724 0.00003
NM_025114.4(CEP290):c.1523-412C>T rs1381940328 0.00003
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) rs387906980 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_152443.3(RDH12):c.139G>A (p.Ala47Thr) rs761231974 0.00003
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314 0.00003
NM_152443.3(RDH12):c.194G>A (p.Arg65Gln) rs745471670 0.00003
NM_152443.3(RDH12):c.844T>G (p.Phe282Val) rs756887056 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_201548.5(CERKL):c.222del (p.Gln74fs) rs1476585944 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619 0.00003
NM_206933.4(USH2A):c.8740C>T (p.Arg2914Ter) rs766590491 0.00003
NM_206933.4(USH2A):c.9355C>T (p.Arg3119Cys) rs576236830 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_000260.4(MYO7A):c.5660C>T (p.Pro1887Leu) rs199606180 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met) rs775321796 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.2259+1G>A rs752736741 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter) rs933169926 0.00002
NM_001242957.3(MAK):c.497G>A (p.Arg166His) rs387906648 0.00002
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala) rs765792753 0.00002
NM_003322.6(TULP1):c.932G>A (p.Arg311Gln) rs1279906432 0.00002
NM_004928.3(CFAP410):c.286G>A (p.Glu96Lys) rs774614339 0.00002
NM_006269.2(RP1):c.1126C>T (p.Arg376Ter) rs760689800 0.00002
NM_006269.2(RP1):c.1498_1499del (p.Met500fs) rs765129639 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_025114.4(CEP290):c.6277del (p.Val2093fs) rs771454167 0.00002
NM_206933.4(USH2A):c.14792-2A>G rs137853923 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.4732C>T (p.Arg1578Cys) rs201529124 0.00002
NM_206933.4(USH2A):c.9371+1G>C rs41308425 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_000180.4(GUCY2D):c.2512C>T (p.Arg838Cys) rs61750172 0.00001
NM_000180.4(GUCY2D):c.2804C>T (p.Ser935Leu) rs1236572248 0.00001
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser) rs773420808 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_000329.3(RPE65):c.2T>C (p.Met1Thr) rs281865285 0.00001
NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) rs61752895 0.00001
NM_000330.4(RS1):c.304C>T (p.Arg102Trp) rs61752067 0.00001
NM_000350.3(ABCA4):c.1822T>A (p.Phe608Ile) rs61752398 0.00001
NM_000350.3(ABCA4):c.319C>T (p.Arg107Ter) rs765429911 0.00001
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135 0.00001
NM_000350.3(ABCA4):c.4748T>C (p.Leu1583Pro) rs61750153 0.00001
NM_000350.3(ABCA4):c.5196+1G>A rs61751377 0.00001
NM_000539.3(RHO):c.1040C>T (p.Pro347Leu) rs29001566 0.00001
NM_000539.3(RHO):c.185C>A (p.Thr62Asn) rs769464362 0.00001
NM_001023570.4(IQCB1):c.1036G>T (p.Glu346Ter) rs387907009 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001142800.2(EYS):c.1056+3A>C rs747923761 0.00001
NM_001142800.2(EYS):c.1308C>A (p.Cys436Ter) rs1471994744 0.00001
NM_001142800.2(EYS):c.2023+5G>A rs1287889008 0.00001
NM_001142800.2(EYS):c.2380C>T (p.Arg794Ter) rs371032798 0.00001
NM_001142800.2(EYS):c.2826_2827del (p.Val944fs) rs878853349 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.7654del (p.Tyr2551_Val2552insTer) rs1064796020 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter) rs1064794573 0.00001
NM_001297.5(CNGB1):c.2582del (p.Gln861fs) rs772330738 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001330691.3(CEP78):c.1447C>T (p.Arg483Ter) rs1210581905 0.00001
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp) rs963466695 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_002900.3(RBP3):c.1162C>T (p.Arg388Ter) rs782245537 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) rs748685592 0.00001
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) rs920685564 0.00001
NM_004928.3(CFAP410):c.355C>T (p.Gln119Ter) rs1457263136 0.00001
NM_004928.3(CFAP410):c.96+1G>A rs752137434 0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) rs1033920857 0.00001
NM_006269.2(RP1):c.4804C>T (p.Gln1602Ter) rs1359338583 0.00001
NM_006445.4(PRPF8):c.6967G>T (p.Gly2323Trp) rs1910997588 0.00001
NM_006531.5(IFT88):c.1373C>T (p.Ala458Val) rs751716540 0.00001
NM_012469.4(PRPF6):c.2752G>A (p.Asp918Asn) rs765346207 0.00001
NM_014014.5(SNRNP200):c.2581T>C (p.Tyr861His) rs1490753612 0.00001
NM_014249.4(NR2E3):c.373C>T (p.Arg125Ter) rs786205493 0.00001
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg) rs201883601 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_015629.4(PRPF31):c.893A>G (p.Lys298Arg) rs763668481 0.00001
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His) rs992814593 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_022124.6(CDH23):c.2525G>A (p.Arg842Gln) rs753068359 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_025114.4(CEP290):c.613C>T (p.Arg205Ter) rs137852835 0.00001
NM_025132.4(WDR19):c.2909C>T (p.Ala970Val) rs771583357 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.7400C>T (p.Thr2467Ile) rs1746861436 0.00001
NM_152443.3(RDH12):c.193C>T (p.Arg65Ter) rs778571042 0.00001
NM_152443.3(RDH12):c.506G>A (p.Arg169Gln) rs971610277 0.00001
NM_152443.3(RDH12):c.619A>G (p.Asn207Asp) rs745871149 0.00001
NM_174878.3(CLRN1):c.189C>A (p.Tyr63Ter) rs111033267 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201548.5(CERKL):c.967_968del (p.Met323fs) rs750151209 0.00001
NM_205861.3(DHDDS):c.681C>G (p.Phe227Leu) rs773292741 0.00001
NM_206933.4(USH2A):c.1055C>T (p.Thr352Ile) rs780308389 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_206933.4(USH2A):c.11299A>T (p.Thr3767Ser) rs1289393326 0.00001
NM_206933.4(USH2A):c.11389+1G>T rs368770647 0.00001
NM_206933.4(USH2A):c.11389+3A>T rs753886165 0.00001
NM_206933.4(USH2A):c.12067-2A>G rs397517978 0.00001
NM_206933.4(USH2A):c.12152_12153insTT (p.Glu4051fs) rs1064793289 0.00001
NM_206933.4(USH2A):c.14285A>G (p.Asn4762Ser) rs1254637647 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.1841-2A>G rs397518003 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.5598T>C (p.Val1866=) rs771810761 0.00001
NM_206933.4(USH2A):c.6958-8A>T rs769264662 0.00001
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041 0.00001
NM_206933.4(USH2A):c.9851G>A (p.Gly3284Glu) rs1043013730 0.00001
NC_000004.12:g.670405_677862del
NC_012920.1:m.8993T>G rs199476133
NM_000180.4(GUCY2D):c.2944+1del rs61750185
NM_000180.4(GUCY2D):c.2965G>C (p.Val989Leu) rs1248867031
NM_000214.3(JAG1):c.2628_2635del (p.Trp876_Asp879delinsTer) rs2122597276
NM_000260.4(MYO7A):c.5880CTT[2] (p.Phe1963del) rs111033232
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs) rs2109284029
NM_000329.3(RPE65):c.1282G>T (p.Gly428Trp) rs2100807435
NM_000329.3(RPE65):c.1348C>G (p.Leu450Val) rs2100807072
NM_000329.3(RPE65):c.1384G>T (p.Glu462Ter) rs62637006
NM_000329.3(RPE65):c.1430A>G (p.Asp477Gly) rs1571158279
NM_000329.3(RPE65):c.350C>T (p.Ser117Phe) rs2100828189
NM_000329.3(RPE65):c.89dup (p.Thr31fs) rs281865286
NM_000330.4(RS1):c.579dup (p.Ile194fs) rs199469697
NM_000350.3(ABCA4):c.1995C>A (p.Tyr665Ter) rs757302286
NM_000350.3(ABCA4):c.2292_2295delinsAGG (p.Cys764_Ser765delinsTer) rs2101069758
NM_000350.3(ABCA4):c.3016G>C (p.Gly1006Arg) rs1660620409
NM_000350.3(ABCA4):c.3862+1G>A rs61751400
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs) rs61751401
NM_000350.3(ABCA4):c.442+2T>A rs1662504014
NM_000350.3(ABCA4):c.5461-1G>T rs2101008577
NM_000350.3(ABCA4):c.5530G>T (p.Gly1844Cys) rs2101008373
NM_000350.3(ABCA4):c.859-13T>C rs1246188478
NM_000390.4(CHM):c.83C>G (p.Ser28Ter) rs2147791162
NM_000440.3(PDE6A):c.1097del (p.Asp366fs) rs1581186849
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg) rs2113582384
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter) rs1450419928
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.2506+7G>A rs1382186195
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) rs779169631
NM_000539.3(RHO):c.302G>T (p.Gly101Val) rs759945007
NM_000539.3(RHO):c.404G>T (p.Arg135Leu) rs104893774
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000539.3(RHO):c.512C>T (p.Pro171Leu) rs2084776162
NM_000539.3(RHO):c.538C>A (p.Pro180Thr) rs1560046837
NM_000539.3(RHO):c.647T>A (p.Met216Lys) rs984572250
NM_000539.3(RHO):c.68C>A (p.Pro23His) rs104893768
NM_000539.3(RHO):c.755G>A (p.Arg252His) rs765438313
NM_000539.3(RHO):c.789CTG[1] (p.Cys264del) rs121918590
NM_000539.3(RHO):c.895G>A (p.Ala299Thr) rs779665096
NM_000539.3(RHO):c.913A>G (p.Ile305Val) rs199701338
NM_000883.4(IMPDH1):c.931G>A (p.Asp311Asn) rs121912550
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001023570.4(IQCB1):c.413T>G (p.Leu138Ter) rs2108595322
NM_001023570.4(IQCB1):c.424_425del (p.Phe142fs) rs750962965
NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter) rs2148416171
NM_001029883.3(PCARE):c.1663del (p.Val555fs) rs2148416150
NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter) rs1238711555
NM_001031710.3(KLHL7):c.433A>G (p.Asn145Asp) rs1182983579
NM_001034853.2(RPGR):c.1754-3C>G rs2147201026
NM_001034853.2(RPGR):c.1880C>A (p.Ser627Ter) rs2147200625
NM_001034853.2(RPGR):c.196C>T (p.Gln66Ter) rs2147290510
NM_001034853.2(RPGR):c.2071G>T (p.Glu691Ter) rs2147199844
NM_001034853.2(RPGR):c.3092del (p.Glu1031fs) rs1186795749
NM_001034853.2(RPGR):c.3096_3097del (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.3097dup (p.Glu1033fs) rs606231180
NM_001034853.2(RPGR):c.310G>A (p.Glu104Lys) rs1601978823
NM_001034853.2(RPGR):c.778+1del rs2147261624
NM_001042432.2(CLN3):c.317T>A (p.Leu106His) rs2046245840
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter) rs2046158549
NM_001142800.2(EYS):c.1274G>A (p.Cys425Tyr) rs1064796021
NM_001142800.2(EYS):c.1650T>G (p.Tyr550Ter) rs1769936722
NM_001142800.2(EYS):c.2021_2023+1dup rs2150286198
NM_001142800.2(EYS):c.2461G>T (p.Gly821Ter) rs2150076887
NM_001142800.2(EYS):c.34_35del (p.Met12fs) rs2127271977
NM_001142800.2(EYS):c.3567del (p.Gly1190fs) rs1767601116
NM_001142800.2(EYS):c.3606C>A (p.Cys1202Ter) rs1297699863
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4393dup (p.Ala1465fs) rs750840208
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.6794del (p.Pro2265fs) rs758109813
NM_001142800.2(EYS):c.7797_7800del (p.His2599fs) rs2149664330
NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs) rs751629543
NM_001142800.2(EYS):c.8239T>G (p.Phe2747Val) rs1279860809
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.8815T>C (p.Cys2939Arg) rs2149624604
NM_001142800.2(EYS):c.8816G>A (p.Cys2939Tyr) rs1582139965
NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs) rs770748359
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs) rs1270198704
NM_001166114.2(PNPLA6):c.3202_3205dup (p.Ile1069fs) rs2146108245
NM_001201543.2(FAM161A):c.1355_1356del (p.Thr452fs) rs397704718
NM_001201543.2(FAM161A):c.1490C>G (p.Ser497Ter) rs2105080547
NM_001242957.3(MAK):c.1143+2_1143+3del rs2127548040
NM_001242957.3(MAK):c.366dup (p.His123fs) rs1776708973
NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter) rs774264204
NM_001297.5(CNGB1):c.2544dup (p.Leu849fs) rs760430056
NM_001297.5(CNGB1):c.2603dup (p.Val869fs) rs2149359033
NM_001297.5(CNGB1):c.2634+2T>C rs2149359022
NM_001297.5(CNGB1):c.2635-2A>T rs2149358592
NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs) rs1365926616
NM_001297.5(CNGB1):c.3150del (p.Phe1051fs) rs753353134
NM_001354768.3(NRL):c.151C>T (p.Pro51Ser) rs794727281
NM_001354768.3(NRL):c.152C>A (p.Pro51His) rs2036353653
NM_001378454.1(ALMS1):c.11638_11639del (p.Val3880fs) rs2104189157
NM_001378454.1(ALMS1):c.5684C>G (p.Ser1895Cys) rs2103787360
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129
NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro) rs748126956
NM_001379270.1(CNGA1):c.1704_1705insT (p.Leu569fs) rs2110127572
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001844.5(COL2A1):c.3757dup (p.Ala1253fs) rs2136511549
NM_002900.3(RBP3):c.1682_1686dup (p.Thr563fs) rs1555211286
NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp) rs1761069157
NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg) rs1761067394
NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs) rs2150921584
NM_003322.6(TULP1):c.821del (p.Lys274fs) rs774204108
NM_003322.6(TULP1):c.99+1G>A rs281865166
NM_003816.3(ADAM9):c.576del (p.Glu193fs) rs2129433190
NM_003816.3(ADAM9):c.997-3C>G rs755598388
NM_004183.4(BEST1):c.968A>T (p.Asp323Val) rs752756768
NM_004928.3(CFAP410):c.143+3A>T
NM_004928.3(CFAP410):c.19_21del (p.Met7del)
NM_004928.3(CFAP410):c.218G>C (p.Arg73Pro) rs140451304
NM_004928.3(CFAP410):c.291C>G (p.Asn97Lys)
NM_004928.3(CFAP410):c.373+91A>G
NM_004928.3(CFAP410):c.382GAG[2] (p.Glu130del)
NM_004928.3(CFAP410):c.441_444del (p.Glu148fs) rs756970705
NM_004928.3(CFAP410):c.73T>C (p.Cys25Arg)
NM_005802.5(TOPORS):c.2038AGA[1] (p.Arg681del) rs1467439518
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) rs543698823
NM_006269.2(RP1):c.1234dup (p.Met412fs) rs760283610
NM_006269.2(RP1):c.2029C>T (p.Arg677Ter) rs104894082
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2515C>T (p.Gln839Ter) rs2129316679
NM_006269.2(RP1):c.4171del (p.Gln1391fs) rs2129317503
NM_006269.2(RP1):c.5017del (p.Tyr1673fs) rs753090404
NM_006269.2(RP1):c.668del (p.Gly223fs) rs1231321479
NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter) rs868566811
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs) rs776644374
NM_006343.3(MERTK):c.2049_2052del (p.Leu683fs) rs775776288
NM_006343.3(MERTK):c.2190-1G>T rs2104423659
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs) rs1342715176
NM_006445.4(PRPF8):c.3368A>G (p.Glu1123Gly) rs1912457869
NM_006445.4(PRPF8):c.6838A>G (p.Asn2280Asp) rs1911029601
NM_006445.4(PRPF8):c.6926A>T (p.His2309Leu) rs121434236
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006531.5(IFT88):c.1082dup (p.Asn361fs) rs1594100988
NM_006915.3(RP2):c.103-2A>G rs2147081133
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668
NM_006915.3(RP2):c.969+2T>C rs1925392056
NM_014014.5(SNRNP200):c.2042G>A (p.Arg681His) rs527236113
NM_014014.5(SNRNP200):c.3260C>T (p.Ser1087Leu) rs267607077
NM_014249.4(NR2E3):c.767C>A (p.Ala256Glu) rs377257254
NM_015102.5(NPHP4):c.3498G>T (p.Glu1166Asp) rs1387983031
NM_015102.5(NPHP4):c.673+5G>T rs1346224220
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.1212_1221del (p.Val407fs) rs2146450161
NM_015629.4(PRPF31):c.1276-2del rs2146450721
NM_015629.4(PRPF31):c.136del (p.Asp46fs) rs2146393019
NM_015629.4(PRPF31):c.238+1_238+7del rs2146394271
NM_015629.4(PRPF31):c.239-1G>A rs2073798309
NM_015629.4(PRPF31):c.523C>T (p.Gln175Ter) rs2146418999
NM_015629.4(PRPF31):c.527+3A>G rs587776590
NM_015629.4(PRPF31):c.541_551GAG[3]CTCCGAGGAGGAGCT[1] (p.Glu185fs) rs2146420554
NM_015629.4(PRPF31):c.633del (p.Met212fs) rs2146421305
NM_015629.4(PRPF31):c.66_79dup (p.Glu27fs) rs2146392668
NM_015629.4(PRPF31):c.855+5G>A rs2146426154
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter) rs1555794205
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920
NM_015662.3(IFT172):c.2158del (p.Arg720fs) rs587777086
NM_015662.3(IFT172):c.2788-3C>G rs2148500413
NM_016247.4(IMPG2):c.2233del (p.Glu745fs) rs1197126131
NM_016247.4(IMPG2):c.3113G>T (p.Cys1038Phe) rs1706305751
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019892.6(INPP5E):c.1094C>T (p.Ser365Leu) rs1388522044
NM_019892.6(INPP5E):c.1267T>C (p.Ser423Pro) rs2131608631
NM_019892.6(INPP5E):c.1800C>G (p.Asp600Glu) rs1158332419
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer) rs779450345
NM_019892.6(INPP5E):c.907G>T (p.Val303Leu) rs746212325
NM_019892.6(INPP5E):c.914C>T (p.Thr305Ile) rs2131611272
NM_019892.6(INPP5E):c.943_965dup (p.Leu323fs) rs2131610473
NM_019892.6(INPP5E):c.[1787G>C;746C>T]
NM_020366.4(RPGRIP1):c.772G>T (p.Glu258Ter) rs2139160690
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) rs760879110
NM_022124.6(CDH23):c.7978del (p.Asp2660fs) rs2132983724
NM_022124.6(CDH23):c.8693C>A (p.Ser2898Tyr) rs1841789978
NM_024649.5(BBS1):c.227T>A (p.Val76Glu) rs2134771309
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs) rs1177923180
NM_032119.4(ADGRV1):c.10264G>C (p.Ala3422Pro) rs2149812991
NM_032119.4(ADGRV1):c.11458C>A (p.Pro3820Thr) rs2149973588
NM_032119.4(ADGRV1):c.12380_12381del (p.Glu4127fs) rs2150063224
NM_032119.4(ADGRV1):c.14494G>A (p.Asp4832Asn) rs2150136010
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_033100.4(CDHR1):c.863-1G>A rs886041900
NM_052989.3(IFT122):c.3649del (p.Glu1217fs) rs2084588345
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter) rs202036979
NM_133497.4(KCNV2):c.364C>G (p.Arg122Gly) rs761130319
NM_152443.3(RDH12):c.164C>T (p.Thr55Met) rs766631462
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152443.3(RDH12):c.362T>C (p.Ile121Thr) rs1594865719
NM_152443.3(RDH12):c.440A>C (p.Asn147Thr) rs1566847499
NM_152443.3(RDH12):c.697G>A (p.Val233Ile) rs140257538
NM_152443.3(RDH12):c.806_810del (p.Ala269fs) rs386834261
NM_152443.3(RDH12):c.883C>T (p.Arg295Ter) rs200387832
NM_152564.5(VPS13B):c.148-17A>G rs2132221851
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr) rs2132624500
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs) rs2132624625
NM_152564.5(VPS13B):c.580+1G>T rs1846848656
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_201253.3(CRB1):c.1027T>C (p.Cys343Arg) rs2125354340
NM_201253.3(CRB1):c.1268G>A (p.Cys423Tyr) rs2125469069
NM_201253.3(CRB1):c.1696G>T (p.Glu566Ter) rs767359805
NM_201253.3(CRB1):c.1733T>A (p.Val578Glu) rs1266363944
NM_201253.3(CRB1):c.18del (p.Asn7fs) rs2125193922
NM_201253.3(CRB1):c.1922G>C (p.Gly641Ala) rs2125471502
NM_201253.3(CRB1):c.2043T>G (p.Cys681Trp) rs2125471930
NM_201253.3(CRB1):c.2363T>G (p.Leu788Arg) rs1664662355
NM_201253.3(CRB1):c.2560G>T (p.Asp854Tyr) rs1553261618
NM_201253.3(CRB1):c.2570T>G (p.Leu857Arg) rs1664678030
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser) rs910489135
NM_201253.3(CRB1):c.3203C>A (p.Thr1068Asn) rs1452661857
NM_201253.3(CRB1):c.3427del (p.Cys1143fs) rs2125500431
NM_201253.3(CRB1):c.3896del (p.Asp1299fs) rs2125513602
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201548.5(CERKL):c.109C>T (p.Gln37Ter) rs1414280804
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_201548.5(CERKL):c.316C>A (p.Arg106Ser) rs569826109
NM_201548.5(CERKL):c.366_367del (p.Phe123fs) rs1305408254
NM_201548.5(CERKL):c.872C>T (p.Thr291Ile) rs1264403798
NM_206933.4(USH2A):c.100C>T (p.Arg34Ter) rs772808534
NM_206933.4(USH2A):c.10318del (p.Ile3440fs) rs1553261898
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11815_11817dup (p.Glu3939dup) rs2102713686
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12848T>C (p.Ile4283Thr) rs754131049
NM_206933.4(USH2A):c.13257_13263del (p.Phe4419fs) rs1057517533
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.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13822C>T (p.Arg4608Ter) rs367674026
NM_206933.4(USH2A):c.14582+1G>C rs1553250150
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.288del (p.Tyr97fs) rs2102788658
NM_206933.4(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.4(USH2A):c.3296_3297del (p.Thr1099fs) rs748369458
NM_206933.4(USH2A):c.3506G>A (p.Trp1169Ter) rs2102467034
NM_206933.4(USH2A):c.3589del (p.Ser1197fs) rs1553313810
NM_206933.4(USH2A):c.3828T>G (p.Tyr1276Ter) rs2034908815
NM_206933.4(USH2A):c.4085C>T (p.Pro1362Leu) rs2102460775
NM_206933.4(USH2A):c.4174G>T (p.Gly1392Ter) rs1177198729
NM_206933.4(USH2A):c.4251+1G>T rs878853405
NM_206933.4(USH2A):c.4276_4277del (p.Glu1426fs) rs1475129324
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.4771G>A (p.Glu1591Lys) rs2102565367
NM_206933.4(USH2A):c.5298+3A>G rs775992706
NM_206933.4(USH2A):c.5530C>T (p.Gln1844Ter) rs761075303
NM_206933.4(USH2A):c.6267T>A (p.Cys2089Ter) rs755646290
NM_206933.4(USH2A):c.6398G>A (p.Trp2133Ter) rs727503725
NM_206933.4(USH2A):c.6511G>A (p.Gly2171Arg) rs1668203744
NM_206933.4(USH2A):c.6971C>T (p.Thr2324Ile) rs1667318951
NM_206933.4(USH2A):c.7225A>C (p.Thr2409Pro) rs2102499658
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro) rs2102470142
NM_206933.4(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.8284C>G (p.Pro2762Ala) rs1188281491
NM_206933.4(USH2A):c.836C>A (p.Ala279Glu) rs2102658782
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9958G>T (p.Gly3320Cys) rs1285853856
NM_207352.4(CYP4V2):c.802-8_810delinsGC rs207482233

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