ClinVar Miner

List of variants reported as uncertain significance for inherited retinal dystrophy by Department of Pathology and Laboratory Medicine, Sinai Health System

Included ClinVar conditions (419):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 354
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HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04034
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473 0.00362
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln) rs138075452 0.00332
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000541.5(SAG):c.374C>T (p.Thr125Met) rs137886124 0.00243
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00232
NM_000180.4(GUCY2D):c.74C>T (p.Ser25Phe) rs557108466 0.00228
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00198
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00168
NM_001142800.2(EYS):c.6535A>G (p.Ile2179Val) rs148019592 0.00165
NM_002905.5(RDH5):c.200A>C (p.Asp67Ala) rs114473507 0.00164
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001375654.1(RP1):c.940G>T (p.Asp314Tyr) rs528158701 0.00141
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00128
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_144631.6(ZNF513):c.395G>C (p.Cys132Ser) rs184500376 0.00122
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354 0.00119
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) rs147220828 0.00101
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220 0.00083
NM_014714.4(IFT140):c.4297C>T (p.Arg1433Cys) rs141392067 0.00083
NM_004744.5(LRAT):c.611C>T (p.Ala204Val) rs144754979 0.00082
NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter) rs200098356 0.00078
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00074
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651 0.00071
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00068
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
NM_201253.3(CRB1):c.3397G>A (p.Val1133Met) rs116246250 0.00066
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met) rs186508466 0.00057
NM_000440.3(PDE6A):c.1408-11G>A rs201527437 0.00056
NM_033100.4(CDHR1):c.1849G>A (p.Ala617Thr) rs141250715 0.00054
NM_148960.3(CLDN19):c.65T>C (p.Ile22Thr) rs140913043 0.00053
NM_001297.5(CNGB1):c.3421G>A (p.Ala1141Thr) rs201449358 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00048
NM_206933.4(USH2A):c.9203T>C (p.Val3068Ala) rs146445078 0.00047
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 0.00045
NM_020949.3(SLC7A14):c.1391G>T (p.Cys464Phe) rs79668755 0.00044
NM_201253.3(CRB1):c.3695A>G (p.His1232Arg) rs142090517 0.00044
NM_000096.4(CP):c.788A>G (p.Asn263Ser) rs150303869 0.00041
NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn) rs149282954 0.00039
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr) rs144970068 0.00036
NM_201253.3(CRB1):c.161G>T (p.Cys54Phe) rs140428156 0.00036
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_000350.3(ABCA4):c.2930C>T (p.Thr977Met) rs148015012 0.00031
NM_000883.4(IMPDH1):c.218G>A (p.Gly73Asp) rs139979391 0.00031
NM_006343.3(MERTK):c.986A>G (p.Asn329Ser) rs34943572 0.00031
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_001004334.4(GPR179):c.3656_3657del (p.Pro1219fs) rs779266036 0.00028
NM_002900.3(RBP3):c.3376G>A (p.Ala1126Thr) rs144751738 0.00028
NM_006329.4(FBLN5):c.799G>A (p.Gly267Ser) rs149396611 0.00026
NM_006204.4(PDE6C):c.1339A>G (p.Asn447Asp) rs139309656 0.00025
NM_006343.3(MERTK):c.2305A>G (p.Ile769Val) rs147899488 0.00024
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr) rs201518882 0.00024
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_144631.6(ZNF513):c.748C>T (p.Arg250Trp) rs200255167 0.00023
NM_206933.4(USH2A):c.13099G>A (p.Val4367Ile) rs146156360 0.00023
NM_002242.4(KCNJ13):c.689G>A (p.Ser230Asn) rs146797648 0.00022
NM_018418.5(SPATA7):c.1112T>C (p.Ile371Thr) rs150364664 0.00022
NM_024741.3(ZNF408):c.2058T>G (p.Phe686Leu) rs35287195 0.00022
NM_201253.3(CRB1):c.4148G>A (p.Arg1383His) rs200573274 0.00022
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr) rs143650826 0.00021
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_001242957.3(MAK):c.787G>A (p.Glu263Lys) rs199689074 0.00020
NM_000096.4(CP):c.1217C>A (p.Ala406Glu) rs147034302 0.00019
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) rs752846577 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000541.5(SAG):c.721A>G (p.Ile241Val) rs370419891 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr) rs200469148 0.00019
NM_005530.3(IDH3A):c.938T>C (p.Met313Thr) rs149862950 0.00018
NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp) rs149945348 0.00017
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00017
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) rs149642039 0.00017
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) rs141086649 0.00016
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00015
NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu) rs559824825 0.00015
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00015
NM_020366.4(RPGRIP1):c.3402_3404del (p.Met1134_Ser1135delinsIle) rs774522001 0.00014
NM_001077620.3(PRCD):c.13C>G (p.Leu5Val) rs200954045 0.00013
NM_001346022.3(USP45):c.1709G>A (p.Gly570Glu) rs778642331 0.00013
NM_002242.4(KCNJ13):c.485G>A (p.Arg162Gln) rs757304681 0.00013
NM_006269.2(RP1):c.2005G>A (p.Ala669Thr) rs201725231 0.00013
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) rs202057799 0.00013
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys) rs370988040 0.00012
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284 0.00012
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu) rs148496805 0.00012
NM_001903.5(CTNNA1):c.1899+4A>G rs371589105 0.00012
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys) rs370504038 0.00012
NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser) rs62636290 0.00012
NM_000096.4(CP):c.782-3C>T rs375191868 0.00011
NM_016247.4(IMPG2):c.2056G>A (p.Ala686Thr) rs148392938 0.00011
NM_016247.4(IMPG2):c.2897A>G (p.Lys966Arg) rs201685456 0.00011
NM_152443.3(RDH12):c.569G>A (p.Ser190Asn) rs371107041 0.00011
NM_178857.6(RP1L1):c.6322G>A (p.Gly2108Arg) rs187998469 0.00011
NM_000440.3(PDE6A):c.2249G>A (p.Arg750His) rs146145709 0.00010
NM_000843.4(GRM6):c.2029C>T (p.Arg677Cys) rs138551288 0.00010
NM_006915.3(RP2):c.889G>C (p.Val297Leu) rs200720598 0.00010
NM_016247.4(IMPG2):c.1300C>T (p.Pro434Ser) rs201924170 0.00010
NM_020366.4(RPGRIP1):c.2725A>G (p.Thr909Ala) rs759254680 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_000440.3(PDE6A):c.2248C>T (p.Arg750Cys) rs577146307 0.00009
NM_000541.5(SAG):c.944+5G>A rs374048703 0.00009
NM_001004334.4(GPR179):c.2498G>A (p.Arg833Gln) rs544904847 0.00009
NM_001012720.2(RGR):c.142C>T (p.Arg48Trp) rs139595177 0.00009
NM_001563.4(IMPG1):c.1228C>A (p.Pro410Thr) rs138431617 0.00009
NM_001621.5(AHR):c.1310G>C (p.Gly437Ala) rs138430398 0.00009
NM_002900.3(RBP3):c.2063C>T (p.Ala688Val) rs200168559 0.00009
NM_172364.5(CACNA2D4):c.2030C>G (p.Pro677Arg) rs375447801 0.00009
NM_178857.6(RP1L1):c.235C>T (p.Arg79Cys) rs377269054 0.00009
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_001142800.2(EYS):c.831T>A (p.Ser277Arg) rs759315564 0.00008
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile) rs549834851 0.00007
NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp) rs201331309 0.00007
NM_001298.3(CNGA3):c.1349C>T (p.Thr450Met) rs536496690 0.00007
NM_001563.4(IMPG1):c.773A>G (p.Tyr258Cys) rs774869075 0.00007
NM_004183.4(BEST1):c.1054G>A (p.Ala352Thr) rs147409760 0.00007
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys) rs564435701 0.00007
NM_178857.6(RP1L1):c.4826G>A (p.Arg1609His) rs559915808 0.00007
NM_199355.4(ADAMTS18):c.2519C>T (p.Thr840Met) rs150566302 0.00007
NM_000326.5(RLBP1):c.304G>A (p.Ala102Thr) rs143121722 0.00006
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682 0.00006
NM_001297.5(CNGB1):c.568G>A (p.Ala190Thr) rs758848800 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_024741.3(ZNF408):c.1783C>T (p.Arg595Trp) rs770529455 0.00006
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln) rs771999994 0.00006
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001256789.3(CACNA1F):c.2777G>A (p.Arg926His) rs782092924 0.00005
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_033100.4(CDHR1):c.562G>A (p.Gly188Ser) rs748412274 0.00005
NM_033100.4(CDHR1):c.698C>T (p.Thr233Met) rs373314306 0.00005
NM_178857.6(RP1L1):c.5326A>T (p.Thr1776Ser) rs199996267 0.00005
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met) rs771965437 0.00004
NM_000717.5(CA4):c.680C>T (p.Pro227Leu) rs766918079 0.00004
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577 0.00004
NM_001297.5(CNGB1):c.2539G>A (p.Gly847Arg) rs200953727 0.00004
NM_001563.4(IMPG1):c.1836T>G (p.Tyr612Ter) rs147614663 0.00004
NM_002900.3(RBP3):c.509G>A (p.Arg170Gln) rs782671340 0.00004
NM_006269.2(RP1):c.3874T>C (p.Ser1292Pro) rs776339290 0.00004
NM_006269.2(RP1):c.4249C>G (p.Leu1417Val) rs766709333 0.00004
NM_014249.4(NR2E3):c.791G>A (p.Gly264Glu) rs201106600 0.00004
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000539.3(RHO):c.659T>G (p.Phe220Cys) rs766161322 0.00003
NM_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001001557.4(GDF6):c.785G>A (p.Ser262Asn) rs747899927 0.00003
NM_001278431.2(C1QTNF5):c.394G>A (p.Glu132Lys) rs751401877 0.00003
NM_001371596.2(MFSD8):c.18C>G (p.Asn6Lys) rs771879274 0.00003
NM_001999.4(FBN2):c.7859G>A (p.Gly2620Glu) rs770728135 0.00003
NM_004183.4(BEST1):c.1645G>A (p.Glu549Lys) rs143671863 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_006269.2(RP1):c.2716G>A (p.Ala906Thr) rs201538234 0.00003
NM_012418.4(FSCN2):c.146A>C (p.Glu49Ala) rs200600577 0.00003
NM_014336.5(AIPL1):c.158G>A (p.Arg53Gln) rs756283764 0.00003
NM_000274.4(OAT):c.1249C>T (p.Pro417Ser) rs763915205 0.00002
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met) rs775321796 0.00002
NM_000350.3(ABCA4):c.3610G>A (p.Asp1204Asn) rs61750127 0.00002
NM_000350.3(ABCA4):c.5966C>T (p.Thr1989Ile) rs766811018 0.00002
NM_001083926.2(ASRGL1):c.76G>T (p.Gly26Cys) rs751865225 0.00002
NM_001142800.2(EYS):c.4526A>G (p.Asn1509Ser) rs531187735 0.00002
NM_001256789.3(CACNA1F):c.1276+34G>A rs782575860 0.00002
NM_002900.3(RBP3):c.1042C>T (p.Pro348Ser) rs199720350 0.00002
NM_006204.4(PDE6C):c.767A>T (p.Asp256Val) rs762557292 0.00002
NM_144596.4(TTC8):c.192A>G (p.Ile64Met) rs775514466 0.00002
NM_178857.6(RP1L1):c.406C>T (p.Arg136Cys) rs781222519 0.00002
NM_178857.6(RP1L1):c.751+5G>C rs781255037 0.00002
NM_000188.3(HK1):c.1550G>A (p.Arg517Gln) rs1202293213 0.00001
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile) rs752738349 0.00001
NM_000350.3(ABCA4):c.2014A>G (p.Lys672Glu) rs377508857 0.00001
NM_000350.3(ABCA4):c.5090T>G (p.Phe1697Cys) rs776687457 0.00001
NM_000350.3(ABCA4):c.5137C>A (p.Gln1713Lys) rs374343397 0.00001
NM_001001557.4(GDF6):c.416C>T (p.Ser139Leu) rs1812463539 0.00001
NM_001122769.3(LCA5):c.1654G>A (p.Ala552Thr) rs547237643 0.00001
NM_001122769.3(LCA5):c.191-3T>A rs886061790 0.00001
NM_001142800.2(EYS):c.6731C>T (p.Thr2244Ile) rs557220287 0.00001
NM_001201543.2(FAM161A):c.917G>A (p.Arg306Gln) rs898558067 0.00001
NM_001371596.2(MFSD8):c.187T>C (p.Tyr63His) rs1227280018 0.00001
NM_001377295.2(GNAT2):c.701T>C (p.Leu234Pro) rs758050645 0.00001
NM_001999.4(FBN2):c.4258A>G (p.Ser1420Gly) rs1407868144 0.00001
NM_004183.4(BEST1):c.20G>A (p.Ser7Asn) rs199508634 0.00001
NM_004249.4(RAB28):c.607G>T (p.Glu203Ter) rs748297852 0.00001
NM_004523.4(KIF11):c.2043A>G (p.Ile681Met) rs775790787 0.00001
NM_005802.5(TOPORS):c.2552G>A (p.Arg851Lys) rs963932717 0.00001
NM_006017.3(PROM1):c.532G>A (p.Val178Met) rs1340984327 0.00001
NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) rs200352674 0.00001
NM_006017.3(PROM1):c.970A>G (p.Ser324Gly) rs766654108 0.00001
NM_006204.4(PDE6C):c.1307C>G (p.Thr436Ser) rs762249684 0.00001
NM_006269.2(RP1):c.3325C>T (p.Pro1109Ser) rs769893619 0.00001
NM_006269.2(RP1):c.6298C>T (p.Leu2100Phe) rs763216053 0.00001
NM_006329.4(FBLN5):c.1076G>A (p.Arg359His) rs768049734 0.00001
NM_014714.4(IFT140):c.2054G>A (p.Arg685His) rs370263158 0.00001
NM_016247.4(IMPG2):c.2050G>A (p.Gly684Arg) rs758509749 0.00001
NM_020461.4(TUBGCP6):c.3308G>A (p.Arg1103Gln) rs199815606 0.00001
NM_021615.5(CHST6):c.827T>C (p.Leu276Pro) rs121917824 0.00001
NM_022367.4(SEMA4A):c.1669C>T (p.Arg557Trp) rs780337679 0.00001
NM_033100.4(CDHR1):c.1720C>G (p.Pro574Ala) rs746501731 0.00001
NM_144596.4(TTC8):c.596T>A (p.Ile199Asn) rs753995884 0.00001
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys) rs1051645354 0.00001
NM_178857.6(RP1L1):c.260T>C (p.Leu87Pro) rs1191410101 0.00001
NM_201253.3(CRB1):c.2209A>G (p.Ile737Val) rs142129159 0.00001
NM_206933.4(USH2A):c.12962A>G (p.Glu4321Gly) rs936692193 0.00001
NM_206933.4(USH2A):c.13352C>T (p.Thr4451Ile) rs772298519 0.00001
NM_206933.4(USH2A):c.15094A>G (p.Ser5032Gly) rs112798365 0.00001
NC_000008.11:g.75728605_75728647del
NC_000008.11:g.75819624_75819627dup
NM_000096.4(CP):c.1919A>G (p.Asp640Gly)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2111A>G (p.Glu704Gly)
NM_000283.4(PDE6B):c.22G>A (p.Ala8Thr)
NM_000322.5(PRPH2):c.205G>C (p.Val69Leu)
NM_000329.3(RPE65):c.1307G>A (p.Gly436Glu) rs62637002
NM_000350.3(ABCA4):c.1519G>C (p.Asp507His)
NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) rs201838557
NM_000350.3(ABCA4):c.4307A>G (p.Asn1436Ser)
NM_000350.3(ABCA4):c.4537C>G (p.Gln1513Glu)
NM_000350.3(ABCA4):c.5037T>G (p.Asp1679Glu)
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.676C>A (p.Arg226Ser) rs149780335
NM_000350.3(ABCA4):c.677G>A (p.Arg226His) rs144310835
NM_000350.3(ABCA4):c.677G>T (p.Arg226Leu) rs144310835
NM_000390.4(CHM):c.395A>T (p.Glu132Val)
NM_000554.6(CRX):c.113A>G (p.Lys38Arg)
NM_000717.5(CA4):c.260G>A (p.Gly87Glu)
NM_000843.4(GRM6):c.524C>G (p.Ala175Gly)
NM_000843.4(GRM6):c.527C>T (p.Ser176Phe) rs1581898677
NM_001001557.4(GDF6):c.460A>G (p.Met154Val) rs766667262
NM_001004334.4(GPR179):c.3259C>A (p.Leu1087Met)
NM_001029883.3(PCARE):c.2965C>A (p.Pro989Thr) rs184281410
NM_001034853.2(RPGR):c.2203_2226del (p.His735_Glu742del) rs768423834
NM_001034853.2(RPGR):c.3062T>G (p.Val1021Gly)
NM_001039348.3(EFEMP1):c.389T>C (p.Met130Thr) rs1670759235
NM_001077620.3(PRCD):c.85G>A (p.Asp29Asn) rs372084413
NM_001122769.3(LCA5):c.337A>C (p.Asn113His)
NM_001142800.2(EYS):c.4261G>T (p.Ala1421Ser)
NM_001142800.2(EYS):c.4262C>G (p.Ala1421Gly)
NM_001142800.2(EYS):c.7270T>C (p.Phe2424Leu)
NM_001142800.2(EYS):c.8487A>C (p.Leu2829Phe)
NM_001201543.2(FAM161A):c.1660G>A (p.Glu554Lys)
NM_001201543.2(FAM161A):c.1815A>T (p.Leu605Phe) rs372597586
NM_001201543.2(FAM161A):c.31G>A (p.Val11Met)
NM_001201543.2(FAM161A):c.721C>G (p.Pro241Ala) rs531709417
NM_001242957.3(MAK):c.1477AAG[1] (p.Lys494del) rs375070639
NM_001242957.3(MAK):c.1879C>T (p.Arg627Cys)
NM_001243925.2(MAPKAPK3):c.82C>G (p.Pro28Ala) rs375412266
NM_001297.5(CNGB1):c.1159G>A (p.Val387Met)
NM_001297.5(CNGB1):c.2310G>A (p.Met770Ile)
NM_001297.5(CNGB1):c.2422C>G (p.Leu808Val)
NM_001297.5(CNGB1):c.3345G>A (p.Met1115Ile)
NM_001297.5(CNGB1):c.3710T>C (p.Ile1237Thr) rs1203042589
NM_001298.3(CNGA3):c.1442G>A (p.Arg481His)
NM_001298.3(CNGA3):c.403C>A (p.Pro135Thr)
NM_001298.3(CNGA3):c.580G>A (p.Glu194Lys) rs2104235566
NM_001298.3(CNGA3):c.884C>T (p.Thr295Ile)
NM_001298.3(CNGA3):c.951T>A (p.Asn317Lys)
NM_001319074.4(RAX2):c.537G>C (p.Arg179Ser)
NM_001346022.3(USP45):c.-10-2A>G
NM_001346022.3(USP45):c.1130del (p.Phe377fs)
NM_001346022.3(USP45):c.2073+1G>T
NM_001346022.3(USP45):c.658G>T (p.Glu220Ter)
NM_001375654.1(RP1):c.1456G>A (p.Glu486Lys)
NM_001375654.1(RP1):c.1922A>G (p.Asp641Gly)
NM_001377295.2(GNAT2):c.257G>A (p.Arg86Gln) rs140250745
NM_001377295.2(GNAT2):c.953A>C (p.Glu318Ala)
NM_001379270.1(CNGA1):c.1028G>T (p.Arg343Ile) rs752003888
NM_001379270.1(CNGA1):c.1621G>A (p.Gly541Ser) rs527236057
NM_001621.5(AHR):c.142G>A (p.Asp48Asn)
NM_001621.5(AHR):c.14G>C (p.Ser5Thr)
NM_001903.5(CTNNA1):c.1143+4A>G rs1382437273
NM_001903.5(CTNNA1):c.2433+217del
NM_001999.4(FBN2):c.243C>A (p.Asp81Glu)
NM_001999.4(FBN2):c.4589G>A (p.Cys1530Tyr) rs2126854530
NM_001999.4(FBN2):c.7154T>C (p.Leu2385Pro)
NM_002900.3(RBP3):c.2644T>C (p.Tyr882His)
NM_002929.3(GRK1):c.1610_1613del (p.Asp537fs) rs756235051
NM_004044.7(ATIC):c.25T>C (p.Phe9Leu)
NM_004183.4(BEST1):c.1067G>T (p.Arg356Leu) rs751707411
NM_004523.4(KIF11):c.2932G>T (p.Val978Leu)
NM_004744.5(LRAT):c.111C>G (p.Asn37Lys) rs995895723
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu) rs147497536
NM_005802.5(TOPORS):c.2484_2486del (p.Ser830del) rs750237658
NM_005802.5(TOPORS):c.2594T>C (p.Leu865Pro)
NM_006017.3(PROM1):c.2440A>G (p.Lys814Glu)
NM_006269.2(RP1):c.4685T>A (p.Met1562Lys) rs774074476
NM_006343.3(MERTK):c.2435A>G (p.Tyr812Cys) rs141361084
NM_006343.3(MERTK):c.2467G>C (p.Glu823Gln) rs55924349
NM_006343.3(MERTK):c.734C>T (p.Ser245Phe)
NM_006744.4(RBP4):c.302C>A (p.Pro101His) rs149091963
NM_012418.4(FSCN2):c.1216C>A (p.Arg406Ser)
NM_014014.5(SNRNP200):c.1665T>G (p.Phe555Leu)
NM_014249.4(NR2E3):c.1127C>T (p.Pro376Leu) rs527428190
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014336.5(AIPL1):c.1090G>T (p.Ala364Ser) rs201875142
NM_014336.5(AIPL1):c.484T>C (p.Tyr162His)
NM_016247.4(IMPG2):c.1498G>A (p.Val500Met)
NM_016247.4(IMPG2):c.2524C>A (p.Leu842Met) rs149896250
NM_018191.4(RCBTB1):c.1543C>G (p.Leu515Val) rs1375754951
NM_018191.4(RCBTB1):c.444+741G>C
NM_018418.5(SPATA7):c.61C>G (p.Leu21Val)
NM_020366.4(RPGRIP1):c.2410G>A (p.Glu804Lys) rs367869842
NM_020461.4(TUBGCP6):c.2936G>A (p.Ser979Asn)
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_021023.6(CFHR3):c.99_105del (p.Phe34fs)
NM_021615.5(CHST6):c.983_992del (p.Asn328fs)
NM_022367.4(SEMA4A):c.2273C>G (p.Thr758Ser)
NM_022367.4(SEMA4A):c.913C>T (p.Arg305Cys)
NM_022726.4(ELOVL4):c.164T>A (p.Leu55His) rs749173327
NM_024741.3(ZNF408):c.1889G>C (p.Arg630Pro) rs138519217
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
NM_025130.4(HKDC1):c.432_438del (p.His145fs)
NM_025130.4(HKDC1):c.650G>A (p.Cys217Tyr)
NM_031478.6(TLCD3B):c.794_801dup (p.Pro268fs)
NM_033100.4(CDHR1):c.2410_2485del (p.Thr804fs) rs1564666557
NM_144631.6(ZNF513):c.424C>T (p.Pro142Ser) rs756624166
NM_152419.3(HGSNAT):c.517G>A (p.Gly173Ser)
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg) rs753959716
NM_172364.5(CACNA2D4):c.2050G>A (p.Asp684Asn) rs777772895
NM_177965.4(CFAP418):c.130C>G (p.Gln44Glu)
NM_178857.6(RP1L1):c.-20+1G>A
NM_178857.6(RP1L1):c.1268G>A (p.Arg423Gln) rs566321002
NM_178857.6(RP1L1):c.2011C>T (p.Arg671Cys) rs375370418
NM_178857.6(RP1L1):c.2693C>A (p.Thr898Lys)
NM_178857.6(RP1L1):c.388C>T (p.Arg130Trp) rs772719903
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGGG (p.Val1320fs)
NM_178857.6(RP1L1):c.3972_3973insGAGGGGGTGCAGTTAGAGGGG (p.Glu1324_Thr1325insGluGlyValGlnLeuGluGly)
NM_178857.6(RP1L1):c.4020_4021del (p.Glu1340fs) rs760615743
NM_178857.6(RP1L1):c.462A>G (p.Ile154Met)
NM_178857.6(RP1L1):c.4769C>A (p.Pro1590His) rs372867998
NM_178857.6(RP1L1):c.838C>T (p.Pro280Ser)
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_201253.3(CRB1):c.5_7del (p.Ala2_Leu3delinsVal)
NM_203288.2(RP9):c.646G>A (p.Glu216Lys)
NM_206933.4(USH2A):c.11602A>T (p.Met3868Leu) rs35309576
NM_206933.4(USH2A):c.12011A>G (p.Glu4004Gly)
NM_206933.4(USH2A):c.13678G>A (p.Gly4560Ser)
NM_206933.4(USH2A):c.1453A>G (p.Ile485Val)
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.2046T>G (p.Asn682Lys) rs767262784
NM_206933.4(USH2A):c.566G>T (p.Arg189Leu) rs747767544
NM_206933.4(USH2A):c.8471T>C (p.Val2824Ala)

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