ClinVar Miner

List of variants reported as likely benign by Dept Of Ophthalmology, Nagoya University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 510
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_014003.4(DHX38):c.1281G>A (p.Pro427=) rs35586337 0.00354
NM_001164665.2(KIAA1549):c.5157C>T (p.Pro1719=) rs148849089 0.00307
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963 0.00243
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_178857.6(RP1L1):c.32C>T (p.Pro11Leu) rs199642627 0.00215
NM_002900.3(RBP3):c.843C>T (p.Pro281=) rs35186791 0.00203
NM_178857.6(RP1L1):c.273C>T (p.Ser91=) rs201810499 0.00200
NM_018474.6(KIZ):c.48C>T (p.Tyr16=) rs150243168 0.00190
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498 0.00158
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_145290.4(ADGRA3):c.1582G>A (p.Gly528Ser) rs61745011 0.00146
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_000390.4(CHM):c.825G>A (p.Pro275=) rs145268507 0.00132
NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln) rs184249075 0.00126
NM_178857.6(RP1L1):c.156C>T (p.Ala52=) rs78501382 0.00112
NM_182916.3(TRNT1):c.945C>T (p.Ile315=) rs150742431 0.00100
NM_001164665.2(KIAA1549):c.3875C>T (p.Pro1292Leu) rs139052197 0.00099
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln) rs78631901 0.00083
NM_001164665.2(KIAA1549):c.2642C>T (p.Thr881Met) rs138709216 0.00081
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_014003.4(DHX38):c.198C>T (p.Asp66=) rs147365158 0.00071
NM_016247.4(IMPG2):c.1582A>G (p.Ile528Val) rs142710242 0.00063
NM_021831.6(AGBL5):c.2438G>A (p.Arg813Gln) rs183748586 0.00059
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_178857.6(RP1L1):c.77C>T (p.Ser26Leu) rs185749010 0.00049
NM_015047.3(EMC1):c.2553C>T (p.Ile851=) rs148902366 0.00046
NM_145290.4(ADGRA3):c.726G>A (p.Pro242=) rs150888668 0.00045
NM_000283.4(PDE6B):c.651G>A (p.Thr217=) rs200664252 0.00041
NM_001164665.2(KIAA1549):c.1344C>T (p.Ala448=) rs183368912 0.00039
NM_014003.4(DHX38):c.375C>T (p.Ser125=) rs139547116 0.00039
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807 0.00038
NM_145290.4(ADGRA3):c.1049C>T (p.Pro350Leu) rs147843055 0.00036
NM_015047.3(EMC1):c.824G>A (p.Arg275Gln) rs374425694 0.00035
NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys) rs201753844 0.00035
NM_001142800.2(EYS):c.4363A>G (p.Ile1455Val) rs183144150 0.00034
NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu) rs201933656 0.00033
NM_006017.3(PROM1):c.333A>G (p.Leu111=) rs182877482 0.00032
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser) rs34943572 0.00031
NM_001029883.3(PCARE):c.959G>A (p.Arg320His) rs201617661 0.00029
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_016247.4(IMPG2):c.3561C>T (p.Ser1187=) rs139496326 0.00025
NM_002900.3(RBP3):c.2980G>A (p.Gly994Arg) rs147772956 0.00024
NM_000431.4(MVK):c.1128C>T (p.Gly376=) rs147662789 0.00023
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_145290.4(ADGRA3):c.3281C>T (p.Ala1094Val) rs141619991 0.00023
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675 0.00022
NM_001164665.2(KIAA1549):c.5568C>T (p.Tyr1856=) rs370609747 0.00021
NM_201253.3(CRB1):c.1986A>G (p.Ser662=) rs115400822 0.00021
NM_001278293.3(ARL6):c.192A>G (p.Ser64=) rs140114162 0.00020
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr) rs200696413 0.00019
NM_001242957.3(MAK):c.1151A>G (p.Asn384Ser) rs55773478 0.00019
NM_014003.4(DHX38):c.1818C>T (p.Gly606=) rs201129506 0.00019
NM_024741.3(ZNF408):c.1557C>T (p.Thr519=) rs148867575 0.00019
NM_145290.4(ADGRA3):c.2715C>T (p.Asn905=) rs143611399 0.00019
NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala) rs200635063 0.00019
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) rs138416665 0.00019
NM_001164665.2(KIAA1549):c.2525C>T (p.Ala842Val) rs202114551 0.00018
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_015047.3(EMC1):c.2454C>T (p.Asn818=) rs141218180 0.00018
NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg) rs201905772 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_001029883.3(PCARE):c.531G>A (p.Pro177=) rs200914951 0.00016
NM_003322.6(TULP1):c.771G>A (p.Thr257=) rs189081258 0.00016
NM_018474.6(KIZ):c.961T>C (p.Ser321Pro) rs116937124 0.00016
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00016
NM_000390.4(CHM):c.1255A>G (p.Ile419Val) rs140093046 0.00015
NM_002900.3(RBP3):c.3635C>T (p.Thr1212Ile) rs147796755 0.00015
NM_015662.3(IFT172):c.5187C>T (p.Asp1729=) rs143671920 0.00015
NM_000350.3(ABCA4):c.1614C>T (p.Ala538=) rs201602424 0.00014
NM_000350.3(ABCA4):c.3363C>T (p.Asp1121=) rs146117512 0.00014
NM_001164665.2(KIAA1549):c.1398C>T (p.Ser466=) rs572555872 0.00014
NM_001201543.2(FAM161A):c.1391A>G (p.His464Arg) rs201315315 0.00014
NM_001354768.3(NRL):c.186C>T (p.Thr62=) rs140765019 0.00014
NM_015047.3(EMC1):c.1202G>A (p.Arg401Gln) rs146431577 0.00014
NM_017739.4(POMGNT1):c.420G>A (p.Thr140=) rs146237009 0.00014
NM_201253.3(CRB1):c.664G>A (p.Glu222Lys) rs114846212 0.00014
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_000322.5(PRPH2):c.507C>T (p.Asn169=) rs143096101 0.00013
NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg) rs182812191 0.00013
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_014714.4(IFT140):c.2583C>T (p.Asp861=) rs576060920 0.00013
NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys) rs186020523 0.00013
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_000329.3(RPE65):c.441A>G (p.Thr147=) rs185049543 0.00012
NM_014003.4(DHX38):c.2880C>T (p.Ile960=) rs183625590 0.00012
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile) rs137876918 0.00012
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_006915.3(RP2):c.814A>G (p.Met272Val) rs143606776 0.00011
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) rs142913613 0.00011
NM_020949.3(SLC7A14):c.2083C>T (p.Arg695Cys) rs181011740 0.00011
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_001012720.2(RGR):c.666C>T (p.Leu222=) rs575867273 0.00010
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr) rs189406424 0.00010
NM_001164665.2(KIAA1549):c.297C>T (p.Pro99=) rs148061561 0.00010
NM_002900.3(RBP3):c.1333G>C (p.Asp445His) rs569378041 0.00010
NM_014003.4(DHX38):c.2652C>T (p.Pro884=) rs146025146 0.00010
NM_018418.5(SPATA7):c.1033A>G (p.Met345Val) rs375371982 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_178857.6(RP1L1):c.1555G>A (p.Gly519Ser) rs775657453 0.00010
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 0.00010
NM_000283.4(PDE6B):c.726G>A (p.Ser242=) rs200975847 0.00009
NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys) rs200817926 0.00009
NM_006269.2(RP1):c.3024G>A (p.Gln1008=) rs555160408 0.00009
NM_006445.4(PRPF8):c.3975C>T (p.Leu1325=) rs375341985 0.00009
NM_014003.4(DHX38):c.1044G>A (p.Val348=) rs534306131 0.00009
NM_014249.4(NR2E3):c.843C>T (p.Pro281=) rs555211505 0.00009
NM_014714.4(IFT140):c.2528C>T (p.Pro843Leu) rs774864079 0.00009
NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys) rs201642067 0.00009
NM_015047.3(EMC1):c.692A>G (p.Asp231Gly) rs571944461 0.00009
NM_020949.3(SLC7A14):c.1704C>T (p.Cys568=) rs550936938 0.00009
NM_201253.3(CRB1):c.1189G>C (p.Asp397His) rs114264441 0.00009
NM_000539.3(RHO):c.186C>T (p.Thr62=) rs367909246 0.00008
NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln) rs763441352 0.00008
NM_001142800.2(EYS):c.2259C>T (p.Leu753=) rs781359405 0.00008
NM_014003.4(DHX38):c.1122C>T (p.Asn374=) rs148166755 0.00008
NM_178857.6(RP1L1):c.4837C>A (p.Leu1613Met) rs181095314 0.00008
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) rs144655434 0.00008
NM_000440.3(PDE6A):c.1479G>A (p.Ala493=) rs772707339 0.00007
NM_001297.5(CNGB1):c.138C>T (p.Ala46=) rs753557311 0.00007
NM_002900.3(RBP3):c.1216G>A (p.Glu406Lys) rs576373730 0.00007
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789 0.00007
NM_014003.4(DHX38):c.1890C>T (p.Asp630=) rs367769997 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_201548.5(CERKL):c.1127A>C (p.Gln376Pro) rs746220721 0.00007
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=) rs764839361 0.00007
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_000283.4(PDE6B):c.699G>A (p.Thr233=) rs148264146 0.00006
NM_000350.3(ABCA4):c.1818C>T (p.Gly606=) rs377164833 0.00006
NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met) rs202166083 0.00006
NM_001164665.2(KIAA1549):c.2196G>A (p.Ala732=) rs771197119 0.00006
NM_001164665.2(KIAA1549):c.426C>T (p.Tyr142=) rs183634909 0.00006
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378 0.00006
NM_006017.3(PROM1):c.807G>A (p.Ala269=) rs140327426 0.00006
NM_006343.3(MERTK):c.1282A>G (p.Ser428Gly) rs555016686 0.00006
NM_014003.4(DHX38):c.3537C>T (p.Ala1179=) rs141593731 0.00006
NM_014003.4(DHX38):c.591C>T (p.Pro197=) rs763901646 0.00006
NM_014249.4(NR2E3):c.410C>T (p.Ser137Phe) rs767828150 0.00006
NM_014714.4(IFT140):c.2645C>T (p.Ala882Val) rs200394007 0.00006
NM_015629.4(PRPF31):c.684C>T (p.Ala228=) rs181492006 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_144631.6(ZNF513):c.1188C>T (p.Ala396=) rs199625496 0.00006
NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr) rs770403429 0.00006
NM_178857.6(RP1L1):c.3053C>A (p.Pro1018His) rs200191362 0.00006
NM_178857.6(RP1L1):c.670G>A (p.Ala224Thr) rs117547822 0.00006
NM_201253.3(CRB1):c.1182C>T (p.Cys394=) rs115352681 0.00006
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp) rs767137840 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_001029883.3(PCARE):c.2898A>C (p.Pro966=) rs187119693 0.00005
NM_001142800.2(EYS):c.2028G>A (p.Thr676=) rs758722034 0.00005
NM_002900.3(RBP3):c.2446G>T (p.Ala816Ser) rs544729230 0.00005
NM_006269.2(RP1):c.2923A>G (p.Ile975Val) rs202016292 0.00005
NM_006944.3(SPP2):c.173C>T (p.Pro58Leu) rs143082886 0.00005
NM_014014.5(SNRNP200):c.5457C>T (p.Ala1819=) rs148995951 0.00005
NM_014249.4(NR2E3):c.1082A>G (p.His361Arg) rs537337423 0.00005
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) rs778020037 0.00005
NM_015662.3(IFT172):c.1678A>G (p.Met560Val) rs763516858 0.00005
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398 0.00005
NM_145290.4(ADGRA3):c.1706C>T (p.Thr569Ile) rs200835396 0.00005
NM_145290.4(ADGRA3):c.859G>A (p.Asp287Asn) rs138542858 0.00005
NM_178857.6(RP1L1):c.2441A>G (p.Glu814Gly) rs190447684 0.00005
NM_178857.6(RP1L1):c.3340T>A (p.Ser1114Thr) rs559059729 0.00005
NM_201253.3(CRB1):c.3228T>C (p.Asp1076=) rs780576185 0.00005
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534 0.00005
NM_000350.3(ABCA4):c.5712A>G (p.Gln1904=) rs191506332 0.00004
NM_000440.3(PDE6A):c.240T>C (p.Asn80=) rs776664462 0.00004
NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=) rs189904739 0.00004
NM_001142800.2(EYS):c.5411T>C (p.Ile1804Thr) rs368097230 0.00004
NM_001142800.2(EYS):c.5775A>G (p.Gln1925=) rs1465801209 0.00004
NM_001142800.2(EYS):c.77G>A (p.Arg26Gln) rs528733427 0.00004
NM_001164665.2(KIAA1549):c.4959G>A (p.Gln1653=) rs184005645 0.00004
NM_002098.6(GUCA1B):c.492C>T (p.Asn164=) rs746910924 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006445.4(PRPF8):c.1116G>A (p.Pro372=) rs376645217 0.00004
NM_014003.4(DHX38):c.1413G>A (p.Ala471=) rs370933306 0.00004
NM_014714.4(IFT140):c.183G>A (p.Pro61=) rs751515057 0.00004
NM_014714.4(IFT140):c.3156C>T (p.Asp1052=) rs528573485 0.00004
NM_016247.4(IMPG2):c.21T>G (p.Phe7Leu) rs193120038 0.00004
NM_016247.4(IMPG2):c.3288G>A (p.Val1096=) rs190315698 0.00004
NM_018418.5(SPATA7):c.1269G>A (p.Ser423=) rs149387181 0.00004
NM_018474.6(KIZ):c.942A>G (p.Lys314=) rs185395297 0.00004
NM_021831.6(AGBL5):c.2526C>T (p.Ala842=) rs529554818 0.00004
NM_024741.3(ZNF408):c.892G>A (p.Gly298Ser) rs371633363 0.00004
NM_145290.4(ADGRA3):c.954T>A (p.Ser318=) rs199639027 0.00004
NM_152419.3(HGSNAT):c.1839C>T (p.Ile613=) rs772611068 0.00004
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile) rs374287774 0.00004
NM_178857.6(RP1L1):c.2465G>A (p.Arg822Gln) rs750002050 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg) rs144524302 0.00004
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=) rs1158136623 0.00004
NM_206933.4(USH2A):c.723T>C (p.Thr241=) rs571744403 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_000283.4(PDE6B):c.2409T>C (p.Asn803=) rs200002559 0.00003
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=) rs765536215 0.00003
NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val) rs184448644 0.00003
NM_001164665.2(KIAA1549):c.1098T>G (p.Leu366=) rs777566268 0.00003
NM_001164665.2(KIAA1549):c.4626C>T (p.Arg1542=) rs577570180 0.00003
NM_001242957.3(MAK):c.1119G>A (p.Pro373=) rs1011259942 0.00003
NM_001297.5(CNGB1):c.3483C>T (p.Val1161=) rs776024444 0.00003
NM_002900.3(RBP3):c.411C>T (p.Ser137=) rs184452710 0.00003
NM_005802.5(TOPORS):c.3084G>A (p.Ser1028=) rs377690669 0.00003
NM_006343.3(MERTK):c.2691C>T (p.Ile897=) rs1361259046 0.00003
NM_014003.4(DHX38):c.2835G>C (p.Leu945=) rs561533345 0.00003
NM_014003.4(DHX38):c.423A>T (p.Glu141Asp) rs145090795 0.00003
NM_017739.4(POMGNT1):c.507C>T (p.Pro169=) rs576860809 0.00003
NM_018418.5(SPATA7):c.929C>T (p.Thr310Ile) rs767454994 0.00003
NM_020949.3(SLC7A14):c.1074G>A (p.Pro358=) rs758898781 0.00003
NM_024741.3(ZNF408):c.377G>A (p.Ser126Asn) rs536561101 0.00003
NM_178857.6(RP1L1):c.1587G>C (p.Glu529Asp) rs750105114 0.00003
NM_178857.6(RP1L1):c.3022C>G (p.Gln1008Glu) rs756996764 0.00003
NM_178857.6(RP1L1):c.3026C>T (p.Ala1009Val) rs751300307 0.00003
NM_178857.6(RP1L1):c.940C>T (p.Arg314Cys) rs777582995 0.00003
NM_182916.3(TRNT1):c.780T>C (p.Asp260=) rs150433086 0.00003
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=) rs192709780 0.00003
NM_206933.4(USH2A):c.1977A>G (p.Gly659=) rs774388489 0.00003
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617 0.00003
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=) rs571110005 0.00003
NM_207352.4(CYP4V2):c.264G>T (p.Pro88=) rs201610304 0.00003
NM_000283.4(PDE6B):c.1575C>T (p.Tyr525=) rs373724992 0.00002
NM_000350.3(ABCA4):c.2862C>T (p.Tyr954=) rs757870374 0.00002
NM_000350.3(ABCA4):c.3972G>A (p.Ala1324=) rs200965081 0.00002
NM_000350.3(ABCA4):c.6528C>T (p.Asp2176=) rs767917933 0.00002
NM_000350.3(ABCA4):c.6579C>T (p.Phe2193=) rs763108716 0.00002
NM_000440.3(PDE6A):c.420C>T (p.Ile140=) rs542505960 0.00002
NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu) rs756152942 0.00002
NM_001029883.3(PCARE):c.358G>C (p.Gly120Arg) rs140625913 0.00002
NM_001029883.3(PCARE):c.407A>G (p.Glu136Gly) rs761117759 0.00002
NM_001142800.2(EYS):c.1929T>C (p.Asp643=) rs1412901872 0.00002
NM_001142800.2(EYS):c.5101C>T (p.Leu1701=) rs776193099 0.00002
NM_001164665.2(KIAA1549):c.1758G>A (p.Pro586=) rs751547233 0.00002
NM_002900.3(RBP3):c.2490C>T (p.Ala830=) rs201066117 0.00002
NM_003322.6(TULP1):c.648G>A (p.Ala216=) rs766865255 0.00002
NM_014003.4(DHX38):c.1002C>T (p.Asp334=) rs202084485 0.00002
NM_014714.4(IFT140):c.3602G>A (p.Arg1201His) rs147292597 0.00002
NM_014714.4(IFT140):c.4302C>T (p.Thr1434=) rs774573860 0.00002
NM_014714.4(IFT140):c.822C>T (p.Ser274=) rs200604057 0.00002
NM_015629.4(PRPF31):c.1149C>T (p.Ile383=) rs750245767 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_018418.5(SPATA7):c.1476C>A (p.Phe492Leu) rs750676893 0.00002
NM_020949.3(SLC7A14):c.636C>T (p.Gly212=) rs765250467 0.00002
NM_144596.4(TTC8):c.5G>A (p.Ser2Asn) rs199571677 0.00002
NM_145290.4(ADGRA3):c.1656C>T (p.Phe552=) rs56925675 0.00002
NM_177965.4(CFAP418):c.564T>C (p.Ile188=) rs754757696 0.00002
NM_178857.6(RP1L1):c.1763A>G (p.Asp588Gly) rs770348021 0.00002
NM_201548.5(CERKL):c.1466C>G (p.Thr489Ser) rs768292284 0.00002
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=) rs199694401 0.00002
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=) rs764036605 0.00002
NM_206933.4(USH2A):c.1572C>T (p.Ala524=) rs748943923 0.00002
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=) rs369511538 0.00002
NM_000188.3(HK1):c.1092C>T (p.Ser364=) rs755245138 0.00001
NM_000188.3(HK1):c.36G>T (p.Thr12=) rs748679725 0.00001
NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe) rs190999087 0.00001
NM_000326.5(RLBP1):c.255G>A (p.Ala85=) rs557154377 0.00001
NM_000329.3(RPE65):c.783G>T (p.Leu261=) rs188493184 0.00001
NM_000350.3(ABCA4):c.2712G>A (p.Thr904=) rs546067089 0.00001
NM_000350.3(ABCA4):c.2841C>T (p.Asp947=) rs200551567 0.00001
NM_000350.3(ABCA4):c.6270G>A (p.Pro2090=) rs755217474 0.00001
NM_000440.3(PDE6A):c.1707G>A (p.Gln569=) rs190218524 0.00001
NM_000440.3(PDE6A):c.286C>T (p.Leu96=) rs148052388 0.00001
NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=) rs368622318 0.00001
NM_001029883.3(PCARE):c.1137A>G (p.Glu379=) rs755968619 0.00001
NM_001142800.2(EYS):c.1539T>C (p.Tyr513=) rs778180391 0.00001
NM_001142800.2(EYS):c.2490T>C (p.Pro830=) rs150194717 0.00001
NM_001142800.2(EYS):c.2577T>C (p.Pro859=) rs1265766894 0.00001
NM_001142800.2(EYS):c.3204T>C (p.Asp1068=) rs923464095 0.00001
NM_001142800.2(EYS):c.3972C>T (p.Leu1324=) rs202130794 0.00001
NM_001142800.2(EYS):c.5955G>A (p.Glu1985=) rs1316970477 0.00001
NM_001142800.2(EYS):c.6888T>C (p.His2296=) rs1357255596 0.00001
NM_001142800.2(EYS):c.7713T>C (p.Asn2571=) rs1266571823 0.00001
NM_001201543.2(FAM161A):c.109A>G (p.Lys37Glu) rs200976538 0.00001
NM_001242957.3(MAK):c.1062C>T (p.Ser354=) rs199694073 0.00001
NM_001242957.3(MAK):c.1315C>T (p.Arg439Trp) rs764870230 0.00001
NM_001242957.3(MAK):c.968C>G (p.Pro323Arg) rs200641218 0.00001
NM_001297.5(CNGB1):c.1443A>G (p.Ala481=) rs755279299 0.00001
NM_001297.5(CNGB1):c.1523C>T (p.Ser508Leu) rs539534716 0.00001
NM_001297.5(CNGB1):c.2979G>A (p.Gly993=) rs749626938 0.00001
NM_001297.5(CNGB1):c.713G>A (p.Gly238Asp) rs201703193 0.00001
NM_002497.4(NEK2):c.1041A>G (p.Arg347=) rs141145283 0.00001
NM_002900.3(RBP3):c.1093G>A (p.Glu365Lys) rs782662883 0.00001
NM_002900.3(RBP3):c.1170C>T (p.Ile390=) rs146764267 0.00001
NM_002900.3(RBP3):c.1770G>A (p.Ala590=) rs782309677 0.00001
NM_003322.6(TULP1):c.24C>A (p.Leu8=) rs764915724 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_004183.4(BEST1):c.699A>G (p.Pro233=) rs760816505 0.00001
NM_005802.5(TOPORS):c.1691G>A (p.Arg564Gln) rs772045314 0.00001
NM_005802.5(TOPORS):c.2783A>G (p.Asn928Ser) rs1369702932 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) rs201910962 0.00001
NM_006017.3(PROM1):c.706G>A (p.Val236Met) rs536161084 0.00001
NM_006269.2(RP1):c.2720T>C (p.Ile907Thr) rs756250298 0.00001
NM_006269.2(RP1):c.5913C>A (p.Asn1971Lys) rs754290174 0.00001
NM_006445.4(PRPF8):c.5862G>A (p.Leu1954=) rs200558108 0.00001
NM_006445.4(PRPF8):c.6051G>A (p.Ser2017=) rs560560988 0.00001
NM_012106.4(ARL2BP):c.138C>T (p.Asp46=) rs771882265 0.00001
NM_012418.4(FSCN2):c.810C>T (p.Tyr270=) rs782805395 0.00001
NM_012469.4(PRPF6):c.1959C>T (p.Ser653=) rs757720133 0.00001
NM_014003.4(DHX38):c.1038C>T (p.Asp346=) rs527510105 0.00001
NM_014003.4(DHX38):c.1956C>T (p.Asp652=) rs2042138181 0.00001
NM_014003.4(DHX38):c.3294C>T (p.Pro1098=) rs768157673 0.00001
NM_014003.4(DHX38):c.696G>A (p.Ser232=) rs556379177 0.00001
NM_014014.5(SNRNP200):c.2340T>C (p.Tyr780=) rs1158989221 0.00001
NM_014014.5(SNRNP200):c.3462C>T (p.Tyr1154=) rs148570522 0.00001
NM_014014.5(SNRNP200):c.4836G>A (p.Thr1612=) rs1428606912 0.00001
NM_014249.4(NR2E3):c.123G>A (p.Val41=) rs555860015 0.00001
NM_014249.4(NR2E3):c.222C>T (p.Ser74=) rs767304567 0.00001
NM_014249.4(NR2E3):c.351C>T (p.Ala117=) rs572488420 0.00001
NM_014249.4(NR2E3):c.489G>A (p.Met163Ile) rs534156309 0.00001
NM_014249.4(NR2E3):c.864T>A (p.Gly288=) rs537802684 0.00001
NM_014714.4(IFT140):c.2367C>T (p.Asp789=) rs757026549 0.00001
NM_014714.4(IFT140):c.3789G>A (p.Pro1263=) rs769211167 0.00001
NM_015662.3(IFT172):c.591G>A (p.Pro197=) rs747654101 0.00001
NM_016247.4(IMPG2):c.2431T>G (p.Ser811Ala) rs76048775 0.00001
NM_016247.4(IMPG2):c.3219C>T (p.His1073=) rs752500181 0.00001
NM_016247.4(IMPG2):c.525T>C (p.Thr175=) rs766687575 0.00001
NM_017739.4(POMGNT1):c.1521C>T (p.Asn507=) rs767617711 0.00001
NM_020949.3(SLC7A14):c.2076G>A (p.Thr692=) rs200086652 0.00001
NM_020949.3(SLC7A14):c.582G>A (p.Leu194=) rs776940063 0.00001
NM_021831.6(AGBL5):c.2262G>A (p.Leu754=) rs77543215 0.00001
NM_021831.6(AGBL5):c.650G>A (p.Arg217Gln) rs541509761 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1578G>A (p.Ala526=) rs373397428 0.00001
NM_024649.5(BBS1):c.447C>T (p.Pro149=) rs763738657 0.00001
NM_024741.3(ZNF408):c.1992G>A (p.Glu664=) rs762663282 0.00001
NM_025114.4(CEP290):c.2091G>A (p.Ala697=) rs1399023990 0.00001
NM_025114.4(CEP290):c.5885G>A (p.Arg1962Lys) rs562477272 0.00001
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883 0.00001
NM_031885.5(BBS2):c.783A>C (p.Ile261=) rs183982328 0.00001
NM_144596.4(TTC8):c.465C>T (p.Ser155=) rs1253468754 0.00001
NM_144631.6(ZNF513):c.219T>C (p.Ser73=) rs148351779 0.00001
NM_145290.4(ADGRA3):c.2370C>T (p.Ile790=) rs777007718 0.00001
NM_152419.3(HGSNAT):c.258C>T (p.Asn86=) rs772299811 0.00001
NM_152419.3(HGSNAT):c.60C>T (p.Ala20=) rs1251787808 0.00001
NM_201548.5(CERKL):c.933C>T (p.Thr311=) rs371048058 0.00001
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986 0.00001
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=) rs760266483 0.00001
NM_206933.4(USH2A):c.14061C>A (p.Val4687=) rs753243273 0.00001
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=) rs779929656 0.00001
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=) rs560861284 0.00001
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=) rs201731826 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_000188.3(HK1):c.1026C>T (p.Ile342=)
NM_000188.3(HK1):c.1560C>T (p.Pro520=) rs200419488
NM_000188.3(HK1):c.660C>T (p.Asp220=)
NM_000283.4(PDE6B):c.556G>A (p.Val186Ile)
NM_000327.4(ROM1):c.9G>A (p.Pro3=)
NM_000350.3(ABCA4):c.462G>A (p.Arg154=) rs1253706083
NM_000431.4(MVK):c.33G>A (p.Pro11=) rs779289416
NM_000431.4(MVK):c.384C>T (p.Ser128=)
NM_000539.3(RHO):c.319C>T (p.Pro107Ser)
NM_000554.6(CRX):c.267C>T (p.Asn89=)
NM_000554.6(CRX):c.660C>G (p.Pro220=)
NM_000717.5(CA4):c.483C>T (p.Asp161=)
NM_000717.5(CA4):c.788C>G (p.Thr263Arg)
NM_001029883.3(PCARE):c.1944C>T (p.Ala648=) rs746635522
NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr) rs370203821
NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala) rs184281410
NM_001029883.3(PCARE):c.3469G>A (p.Gly1157Arg) rs755486918
NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe) rs78471512
NM_001034853.2(RPGR):c.1281A>G (p.Thr427=)
NM_001034853.2(RPGR):c.3183GGA[2] (p.Glu1066del) rs746535151
NM_001077620.3(PRCD):c.123G>A (p.Ala41=) rs750104756
NM_001142800.2(EYS):c.4393G>T (p.Ala1465Ser) rs747921119
NM_001142800.2(EYS):c.4455A>G (p.Arg1485=) rs755759273
NM_001142800.2(EYS):c.6474G>T (p.Leu2158=) rs1383513366
NM_001142800.2(EYS):c.7164A>C (p.Pro2388=) rs1233804845
NM_001142800.2(EYS):c.8812C>A (p.Leu2938Met)
NM_001164665.2(KIAA1549):c.3066T>G (p.Leu1022=)
NM_001164665.2(KIAA1549):c.462C>G (p.Asp154Glu) rs191728209
NM_001164665.2(KIAA1549):c.5198A>G (p.Gln1733Arg)
NM_001164665.2(KIAA1549):c.5403G>A (p.Ser1801=) rs1381129838
NM_001164665.2(KIAA1549):c.625A>T (p.Thr209Ser)
NM_001201543.2(FAM161A):c.1113C>G (p.Asp371Glu)
NM_001201543.2(FAM161A):c.1214G>C (p.Gly405Ala)
NM_001242957.3(MAK):c.1353G>T (p.Ser451=)
NM_001242957.3(MAK):c.369T>C (p.His123=)
NM_001297.5(CNGB1):c.2066A>G (p.His689Arg)
NM_001297.5(CNGB1):c.3420C>T (p.Ala1140=) rs371860152
NM_001563.4(IMPG1):c.1606C>A (p.Leu536Ile)
NM_001563.4(IMPG1):c.534G>T (p.Glu178Asp)
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_002900.3(RBP3):c.1753C>T (p.Pro585Ser)
NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu)
NM_003611.3(OFD1):c.360T>G (p.Thr120=)
NM_004183.4(BEST1):c.1739+120T>C
NM_004183.4(BEST1):c.1739+190G>A
NM_004698.4(PRPF3):c.705C>T (p.Leu235=)
NM_004698.4(PRPF3):c.753G>A (p.Thr251=)
NM_005802.5(TOPORS):c.1845T>G (p.His615Gln)
NM_005802.5(TOPORS):c.2356C>T (p.Arg786Trp)
NM_005802.5(TOPORS):c.2498A>T (p.Asp833Val)
NM_005802.5(TOPORS):c.2575A>G (p.Lys859Glu)
NM_005802.5(TOPORS):c.2675A>G (p.Lys892Arg)
NM_005802.5(TOPORS):c.3089G>A (p.Arg1030Gln)
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_006017.3(PROM1):c.1659G>A (p.Lys553=)
NM_006269.2(RP1):c.2160C>T (p.Pro720=)
NM_006269.2(RP1):c.2830G>A (p.Val944Met)
NM_006269.2(RP1):c.2960G>A (p.Cys987Tyr)
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)
NM_006269.2(RP1):c.5552A>C (p.His1851Pro)
NM_006343.3(MERTK):c.1229C>T (p.Thr410Ile)
NM_006343.3(MERTK):c.1405G>T (p.Val469Phe) rs79943145
NM_006343.3(MERTK):c.2874G>C (p.Pro958=) rs144406499
NM_006343.3(MERTK):c.756A>C (p.Pro252=) rs3761702
NM_006445.4(PRPF8):c.1137G>A (p.Glu379=)
NM_006445.4(PRPF8):c.1755T>C (p.Val585=)
NM_006445.4(PRPF8):c.1800A>G (p.Arg600=)
NM_006445.4(PRPF8):c.2199G>A (p.Thr733=) rs777885967
NM_006445.4(PRPF8):c.2739C>T (p.Pro913=)
NM_006445.4(PRPF8):c.3039C>T (p.Asn1013=)
NM_006445.4(PRPF8):c.4311T>C (p.Arg1437=)
NM_006445.4(PRPF8):c.4638T>C (p.Asn1546=)
NM_006445.4(PRPF8):c.5052C>T (p.Phe1684=)
NM_006445.4(PRPF8):c.6220A>C (p.Arg2074=)
NM_006445.4(PRPF8):c.6468C>G (p.Thr2156=)
NM_006445.4(PRPF8):c.6582C>T (p.Thr2194=)
NM_006445.4(PRPF8):c.882T>C (p.Asn294=)
NM_006944.3(SPP2):c.105C>T (p.Tyr35=)
NM_012418.4(FSCN2):c.384C>T (p.Ala128=)
NM_012418.4(FSCN2):c.408C>T (p.Ala136=)
NM_012418.4(FSCN2):c.469C>T (p.Arg157Trp)
NM_012418.4(FSCN2):c.470G>A (p.Arg157Gln) rs199574936
NM_012418.4(FSCN2):c.886A>G (p.Ile296Val)
NM_012469.4(PRPF6):c.1368G>C (p.Ala456=)
NM_012469.4(PRPF6):c.2185C>A (p.Arg729=)
NM_012469.4(PRPF6):c.2252G>A (p.Arg751Gln)
NM_012469.4(PRPF6):c.2639TCT[1] (p.Phe881del)
NM_014003.4(DHX38):c.2742G>A (p.Pro914=)
NM_014014.5(SNRNP200):c.1128G>A (p.Arg376=)
NM_014014.5(SNRNP200):c.3888C>G (p.Pro1296=) rs143175658
NM_014249.4(NR2E3):c.1020G>A (p.Glu340=) rs2140291719
NM_014249.4(NR2E3):c.882G>A (p.Thr294=) rs1805024
NM_014714.4(IFT140):c.1405C>A (p.Leu469Ile)
NM_014714.4(IFT140):c.2676C>T (p.Ala892=) rs377016838
NM_014714.4(IFT140):c.3215G>A (p.Arg1072Gln) rs201884886
NM_014714.4(IFT140):c.3420G>A (p.Glu1140=)
NM_014714.4(IFT140):c.3561G>A (p.Ser1187=) rs769082969
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950
NM_015047.3(EMC1):c.155A>G (p.Lys52Arg)
NM_015047.3(EMC1):c.2418C>T (p.Thr806=) rs766175186
NM_015629.4(PRPF31):c.69T>C (p.Tyr23=)
NM_015629.4(PRPF31):c.792T>C (p.Ser264=)
NM_015629.4(PRPF31):c.96C>T (p.Ile32=)
NM_015662.3(IFT172):c.1731C>T (p.Thr577=) rs369849820
NM_015662.3(IFT172):c.3699C>T (p.Leu1233=)
NM_015999.6(ADIPOR1):c.885C>T (p.Thr295=)
NM_016247.4(IMPG2):c.192G>A (p.Gln64=)
NM_016247.4(IMPG2):c.3393T>C (p.His1131=) rs1706278913
NM_017739.4(POMGNT1):c.*551A>G
NM_017739.4(POMGNT1):c.1203T>C (p.Asp401=) rs1437757660
NM_020949.3(SLC7A14):c.1491G>A (p.Gly497=) rs145787666
NM_021831.6(AGBL5):c.1229C>T (p.Ala410Val)
NM_022367.4(SEMA4A):c.93G>T (p.Ala31=)
NM_024741.3(ZNF408):c.704C>G (p.Pro235Arg)
NM_025114.4(CEP290):c.2533A>C (p.Arg845=) rs371475408
NM_025114.4(CEP290):c.4044T>C (p.His1348=) rs771298371
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.6054A>G (p.Leu2018=) rs2136912612
NM_031885.5(BBS2):c.1158G>A (p.Thr386=) rs199944942
NM_144596.4(TTC8):c.324C>T (p.Ala108=) rs571883979
NM_144631.6(ZNF513):c.147A>G (p.Glu49=)
NM_145290.4(ADGRA3):c.3543A>C (p.Ala1181=) rs1577315911
NM_145290.4(ADGRA3):c.501A>G (p.Ser167=)
NM_152443.3(RDH12):c.711G>A (p.Leu237=)
NM_152443.3(RDH12):c.798G>A (p.Leu266=) rs192095744
NM_178857.6(RP1L1):c.1058G>C (p.Ser353Thr)
NM_178857.6(RP1L1):c.1112G>T (p.Gly371Val)
NM_178857.6(RP1L1):c.1491G>C (p.Gly497=)
NM_178857.6(RP1L1):c.1551A>G (p.Gln517=) rs761588903
NM_178857.6(RP1L1):c.2026A>T (p.Ser676Cys)
NM_178857.6(RP1L1):c.2499G>A (p.Pro833=) rs373310698
NM_178857.6(RP1L1):c.3582G>A (p.Thr1194=)
NM_178857.6(RP1L1):c.4004G>C (p.Gly1335Ala)
NM_178857.6(RP1L1):c.4150G>C (p.Gly1384Arg)
NM_178857.6(RP1L1):c.4440G>T (p.Pro1480=) rs76720252
NM_178857.6(RP1L1):c.4671G>A (p.Ala1557=) rs150438402
NM_178857.6(RP1L1):c.4699C>T (p.Arg1567Cys)
NM_178857.6(RP1L1):c.4769C>T (p.Pro1590Leu)
NM_178857.6(RP1L1):c.5160T>C (p.Thr1720=)
NM_178857.6(RP1L1):c.5771C>A (p.Ala1924Asp) rs774309647
NM_178857.6(RP1L1):c.5983C>A (p.Pro1995Thr)
NM_178857.6(RP1L1):c.631C>T (p.Leu211=) rs780247256
NM_178857.6(RP1L1):c.6548C>A (p.Pro2183Gln)
NM_178857.6(RP1L1):c.6618A>G (p.Gln2206=)
NM_178857.6(RP1L1):c.994G>A (p.Val332Ile)
NM_178857.6(RP1L1):c.995T>C (p.Val332Ala)
NM_201253.3(CRB1):c.2677-446T>C
NM_201253.3(CRB1):c.3258T>A (p.Ala1086=) rs535494663
NM_201548.5(CERKL):c.1143G>A (p.Gln381=) rs1574435800
NM_201548.5(CERKL):c.1449GGA[3] (p.Glu486del)
NM_206933.4(USH2A):c.10532A>G (p.Asp3511Gly)
NM_206933.4(USH2A):c.11468T>C (p.Val3823Ala)
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=) rs1486960561
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=) rs1656939166
NM_206933.4(USH2A):c.14916C>T (p.Arg4972=)
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=) rs1173545767
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr) rs201643378
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser)
NM_207352.4(CYP4V2):c.1338C>T (p.Pro446=) rs35524919

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