ClinVar Miner

List of variants studied for perceptual disorders by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 296
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_005797.4(MPZL2):c.220C>T (p.Gln74Ter) rs146689036 0.00041
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) rs148460146 0.00024
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163 0.00019
NM_001256317.3(TMPRSS3):c.916G>A (p.Ala306Thr) rs181949335 0.00019
NM_000441.2(SLC26A4):c.919-2A>G rs111033313 0.00018
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter) rs104894398 0.00013
NM_153700.2(STRC):c.4057C>T (p.Gln1353Ter) rs774312182 0.00011
NM_001142800.2(EYS):c.7609G>A (p.Ala2537Thr) rs189406424 0.00010
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_207352.4(CYP4V2):c.992A>C (p.His331Pro) rs199476197 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_001145026.2(PTPRQ):c.6556C>T (p.Arg2186Ter) rs933245871 0.00007
NM_000260.4(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) rs752786160 0.00006
NM_000350.3(ABCA4):c.3292C>T (p.Arg1098Cys) rs756840095 0.00006
NM_000350.3(ABCA4):c.71G>A (p.Arg24His) rs62645958 0.00006
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser) rs780987516 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_207352.4(CYP4V2):c.1091-2A>G rs199476183 0.00005
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362 0.00004
NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe) rs374714909 0.00004
NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met) rs200090033 0.00004
NM_001379270.1(CNGA1):c.253del (p.Leu85fs) rs749012133 0.00004
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_031885.5(BBS2):c.534+1G>T rs773862084 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_001371596.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971 0.00003
NM_002905.5(RDH5):c.285G>A (p.Trp95Ter) rs774122562 0.00003
NM_004004.6(GJB2):c.299_300del (p.His100fs) rs111033204 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_006005.3(WFS1):c.818A>C (p.Glu273Ala) rs546948362 0.00003
NM_201253.3(CRB1):c.2291G>A (p.Arg764His) rs375040930 0.00003
NM_206933.4(USH2A):c.8559-2A>G rs397518039 0.00003
NM_000329.3(RPE65):c.1544G>A (p.Arg515Gln) rs559975684 0.00002
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409 0.00002
NM_000350.3(ABCA4):c.763C>T (p.Arg255Cys) rs62645952 0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu) rs747076316 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001378615.1(CC2D2A):c.4345C>G (p.Pro1449Ala) rs375410796 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_004183.4(BEST1):c.140G>A (p.Arg47His) rs28940278 0.00002
NM_004183.4(BEST1):c.604C>T (p.Arg202Trp) rs765998048 0.00002
NM_004183.4(BEST1):c.636+1G>A rs62637337 0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met) rs761216725 0.00002
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_153700.2(STRC):c.5188C>T (p.Arg1730Ter) rs139956283 0.00002
NM_206933.4(USH2A):c.5581G>A (p.Gly1861Ser) rs375668376 0.00002
NM_207352.4(CYP4V2):c.1168C>T (p.Arg390Cys) rs776616377 0.00002
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000350.3(ABCA4):c.203C>T (p.Pro68Leu) rs62654397 0.00001
NM_000350.3(ABCA4):c.3106G>A (p.Glu1036Lys) rs61750061 0.00001
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861 0.00001
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474 0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg) rs142498437 0.00001
NM_000441.2(SLC26A4):c.1707+5G>A rs192366176 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) rs186643840 0.00001
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_006343.3(MERTK):c.225del (p.Gly76fs) rs527236083 0.00001
NM_016239.4(MYO15A):c.3756+1G>A rs748108031 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_020061.6(OPN1LW):c.920C>T (p.Pro307Leu) rs782797093 0.00001
NM_152419.3(HGSNAT):c.1030C>T (p.Arg344Cys) rs121908285 0.00001
NM_152443.3(RDH12):c.437T>A (p.Val146Asp) rs116649873 0.00001
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437 0.00001
NM_206933.4(USH2A):c.538T>C (p.Ser180Pro) rs1171672823 0.00001
NM_206933.4(USH2A):c.5572+1G>A rs775293551 0.00001
NM_207352.4(CYP4V2):c.1327C>T (p.Arg443Trp) rs777774802 0.00001
NC_000011.10:g.77190085_77190095del rs397516303
NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)
NM_000180.4(GUCY2D):c.1789G>A (p.Gly597Arg)
NM_000180.4(GUCY2D):c.2071del (p.Leu691fs)
NM_000180.4(GUCY2D):c.2649del (p.Phe883fs) rs1598150748
NM_000260.4(MYO7A):c.1981ATG[1] (p.Met662del)
NM_000260.4(MYO7A):c.295G>C (p.Gly99Arg)
NM_000260.4(MYO7A):c.3008A>G (p.Lys1003Arg)
NM_000260.4(MYO7A):c.3886C>G (p.Arg1296Gly)
NM_000260.4(MYO7A):c.4168G>T (p.Glu1390Ter)
NM_000260.4(MYO7A):c.4398G>A (p.Trp1466Ter) rs1956759935
NM_000260.4(MYO7A):c.4485G>A (p.Trp1495Ter)
NM_000260.4(MYO7A):c.471-1G>A rs548172627
NM_000260.4(MYO7A):c.5143GAG[1] (p.Glu1716del) rs1555102843
NM_000260.4(MYO7A):c.5605G>A (p.Asp1869Asn)
NM_000260.4(MYO7A):c.5856+1G>A
NM_000260.4(MYO7A):c.6479G>A (p.Trp2160Ter)
NM_000260.4(MYO7A):c.701A>G (p.Gln234Arg)
NM_000283.4(PDE6B):c.861dup (p.Asp288Ter)
NM_000322.5(PRPH2):c.914del (p.Gly305fs) rs2152003847
NM_000329.3(RPE65):c.1059dup (p.Lys354fs) rs2100817031
NM_000330.4(RS1):c.574C>T (p.Pro192Ser) rs61753174
NM_000350.3(ABCA4):c.1019A>G (p.Tyr340Cys)
NM_000350.3(ABCA4):c.1835A>C (p.Gln612Pro)
NM_000350.3(ABCA4):c.2063dup (p.Asn688fs)
NM_000350.3(ABCA4):c.302+4A>G
NM_000350.3(ABCA4):c.3055A>G (p.Thr1019Ala) rs61749457
NM_000350.3(ABCA4):c.5461-6T>G
NM_000350.3(ABCA4):c.5486T>C (p.Leu1829Pro)
NM_000350.3(ABCA4):c.6415C>T (p.Arg2139Trp) rs61750653
NM_000350.3(ABCA4):c.983A>T (p.Glu328Val) rs61751419
NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter) rs764025364
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter) rs371544695
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del) rs777008062
NM_000441.2(SLC26A4):c.1544+5G>A rs1057521147
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2030G>C (p.Arg677Pro)
NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp) rs1417146153
NM_000441.2(SLC26A4):c.221G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser) rs1409565648
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.626G>A (p.Gly209Glu)
NM_000541.5(SAG):c.72_75+15del rs771810575
NM_000883.4(IMPDH1):c.288C>G (p.Gly96=)
NM_001004334.4(GPR179):c.481C>T (p.Gln161Ter) rs768765919
NM_001004334.4(GPR179):c.951C>A (p.Cys317Ter)
NM_001004334.4(GPR179):c.955T>C (p.Cys319Arg)
NM_001029883.3(PCARE):c.3108del (p.Arg1037fs)
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2797G>T (p.Glu933Ter)
NM_001034853.2(RPGR):c.2872del (p.Glu958fs)
NM_001034853.2(RPGR):c.3263_3266del (p.Val1088fs)
NM_001039141.3(TRIOBP):c.2355_2356del (p.Arg785fs)
NM_001039141.3(TRIOBP):c.4526_4527del (p.Arg1509fs) rs1601639680
NM_001046.3(SLC12A2):c.2962C>A (p.Pro988Thr) rs1581138965
NM_001079827.2(CLRN2):c.236G>T (p.Arg79Leu) rs200144103
NM_001127453.2(GSDME):c.1454T>G (p.Leu485Arg)
NM_001127453.2(GSDME):c.991-21TTC[2] rs727505273
NM_001142800.2(EYS):c.4321C>T (p.Gln1441Ter) rs1766410692
NM_001142800.2(EYS):c.5929C>T (p.Gln1977Ter)
NM_001142966.3(GREB1L):c.2183-2A>G
NM_001145026.2(PTPRQ):c.6742C>T (p.Gln2248Ter)
NM_001145319.2(PLS1):c.805G>A (p.Glu269Lys) rs1577888985
NM_001145809.2(MYH14):c.2282G>C (p.Gly761Ala)
NM_001145809.2(MYH14):c.2299C>T (p.Arg767Cys) rs28940307
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.469C>G (p.Arg157Gly)
NM_001256317.3(TMPRSS3):c.1033dup (p.Ala345fs)
NM_001256317.3(TMPRSS3):c.432del (p.Gln144fs)
NM_001292063.2(OTOG):c.6284_6287dup (p.Cys2096Ter)
NM_001298.3(CNGA3):c.1190G>T (p.Gly397Val)
NM_001298.3(CNGA3):c.2013del (p.Gly672fs)
NM_001329556.3(REEP6):c.598+1G>A rs751330788
NM_001368894.2(PAX6):c.535G>T (p.Gly179Trp)
NM_001368894.2(PAX6):c.823C>T (p.Arg275Ter) rs886041222
NM_001377295.2(GNAT2):c.821T>C (p.Phe274Ser) rs1649516067
NM_001378609.3(OTOGL):c.1325_1329delinsT (p.Asn442fs)
NM_001378609.3(OTOGL):c.6494C>A (p.Ser2165Ter)
NM_001378609.3(OTOGL):c.6501dup (p.Cys2168fs)
NM_001378615.1(CC2D2A):c.1538G>A (p.Trp513Ter) rs2109029867
NM_001378615.1(CC2D2A):c.2440dup (p.Ile814fs)
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3613dup (p.Ile1205fs)
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001378615.1(CC2D2A):c.715del (p.Met239fs)
NM_001384140.1(PCDH15):c.1918-1G>A
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384474.1(LOXHD1):c.3186del (p.Asp1063fs)
NM_001384474.1(LOXHD1):c.3268C>T (p.Arg1090Trp)
NM_001384474.1(LOXHD1):c.5085+1G>A rs1418245706
NM_001614.5(ACTG1):c.485C>T (p.Thr162Met) rs2031771459
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)
NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys) rs769329430
NM_001999.4(FBN2):c.3364T>C (p.Ser1122Pro)
NM_002160.4(TNC):c.5978C>T (p.Thr1993Met)
NM_002473.6(MYH9):c.2768G>A (p.Arg923Lys)
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002700.3(POU4F3):c.337C>T (p.Gln113Ter)
NM_002700.3(POU4F3):c.696G>C (p.Glu232Asp)
NM_003322.6(TULP1):c.1592C>T (p.Ala531Val)
NM_003322.6(TULP1):c.310del (p.Glu104fs)
NM_003611.3(OFD1):c.1597_1598del (p.Lys533fs)
NM_003611.3(OFD1):c.312+2T>C
NM_003816.3(ADAM9):c.103C>T (p.Gln35Ter)
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.6(GJB2):c.257C>G (p.Thr86Arg) rs1291519904
NM_004004.6(GJB2):c.428G>C (p.Arg143Pro)
NM_004004.6(GJB2):c.456C>G (p.Tyr152Ter)
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter) rs1566528185
NM_004004.6(GJB2):c.9G>A (p.Trp3Ter) rs111033401
NM_004183.4(BEST1):c.362G>C (p.Gly121Ala)
NM_004183.4(BEST1):c.488T>G (p.Met163Arg)
NM_004523.4(KIF11):c.1060dup (p.His354fs)
NM_004523.4(KIF11):c.634C>T (p.Gln212Ter)
NM_004523.4(KIF11):c.733A>G (p.Met245Val) rs1403095180
NM_004700.4(KCNQ4):c.1668C>G (p.Tyr556Ter)
NM_004700.4(KCNQ4):c.853G>A (p.Gly285Ser) rs28937588
NM_004700.4(KCNQ4):c.882G>A (p.Trp294Ter)
NM_004727.3(SLC24A1):c.909_913dup (p.Lys305fs)
NM_004999.4(MYO6):c.2003G>T (p.Cys668Phe)
NM_004999.4(MYO6):c.2339T>C (p.Leu780Ser)
NM_004999.4(MYO6):c.2473_2478delinsGTT (p.Arg825_Met826delinsVal)
NM_004999.4(MYO6):c.3216_3219dup (p.Lys1074Ter)
NM_004999.4(MYO6):c.3712C>T (p.Arg1238Trp)
NM_005219.5(DIAPH1):c.3613_3616del (p.Ala1205fs)
NM_005422.4(TECTA):c.1513G>C (p.Asp505His)
NM_005422.4(TECTA):c.211G>A (p.Gly71Arg)
NM_005422.4(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.4(TECTA):c.6359G>C (p.Ser2120Thr)
NM_005422.4(TECTA):c.790+4A>G
NM_005797.4(MPZL2):c.463del (p.Ala155fs) rs759432278
NM_005982.4(SIX1):c.385T>C (p.Tyr129His)
NM_006005.3(WFS1):c.1228del (p.Leu410fs)
NM_006005.3(WFS1):c.1230_1233del (p.Val412fs) rs760337383
NM_006005.3(WFS1):c.2070_2079del (p.Cys690fs)
NM_006005.3(WFS1):c.2530G>A (p.Ala844Thr)
NM_006005.3(WFS1):c.2546A>G (p.Asn849Ser)
NM_006005.3(WFS1):c.2637C>G (p.Phe879Leu)
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) rs137853006
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006269.2(RP1):c.1951C>T (p.Gln651Ter)
NM_006269.2(RP1):c.3688_3689insCCT (p.Gln1230delinsProTer)
NM_006269.2(RP1):c.6181del (p.Ile2061fs) rs775367880
NM_006343.3(MERTK):c.296_297del (p.Thr99fs)
NM_006343.3(MERTK):c.590C>T (p.Pro197Leu)
NM_006445.4(PRPF8):c.6928A>G (p.Arg2310Gly) rs752997229
NM_014014.5(SNRNP200):c.2534G>A (p.Gly845Glu)
NM_014249.4(NR2E3):c.461G>C (p.Gly154Ala)
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter) rs1342475527
NM_015629.4(PRPF31):c.1066G>A (p.Gly356Ser)
NM_015629.4(PRPF31):c.420+1G>A
NM_016239.4(MYO15A):c.10178dup (p.Ala3394fs)
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) rs2142436425
NM_016239.4(MYO15A):c.1691_1692dup (p.Val565fs)
NM_016239.4(MYO15A):c.2174del (p.Pro725fs)
NM_016239.4(MYO15A):c.2440_2444del (p.Ala814fs)
NM_016239.4(MYO15A):c.4441T>C (p.Ser1481Pro) rs758896141
NM_016239.4(MYO15A):c.5638G>A (p.Gly1880Arg)
NM_016239.4(MYO15A):c.5964+3G>A rs530975087
NM_016239.4(MYO15A):c.8285T>A (p.Val2762Asp)
NM_016239.4(MYO15A):c.900del (p.Pro301fs) rs2142242418
NM_016356.5(DCDC2):c.705-2A>G
NM_017433.5(MYO3A):c.2260C>T (p.Gln754Ter)
NM_017433.5(MYO3A):c.3499del (p.Ser1167fs) rs752046945
NM_017739.4(POMGNT1):c.1284+2_1284+19del rs1057516409
NM_017739.4(POMGNT1):c.701G>A (p.Trp234Ter)
NM_020461.4(TUBGCP6):c.5275_5285del (p.Pro1759fs) rs757636489
NM_021615.5(CHST6):c.290dup (p.Ser98fs)
NM_022124.6(CDH23):c.5268G>T (p.Glu1756Asp)
NM_024009.3(GJB3):c.350dup (p.Tyr117Ter)
NM_025114.4(CEP290):c.2258C>A (p.Ser753Ter)
NM_025114.4(CEP290):c.384_387del (p.Asp128fs) rs386834157
NM_025114.4(CEP290):c.4655AAG[2] (p.Glu1554del) rs757309583
NM_025114.4(CEP290):c.5009_5012del (p.Leu1670fs) rs2137150860
NM_025130.4(HKDC1):c.173C>T (p.Thr58Met) rs142379141
NM_031885.5(BBS2):c.1059dup (p.Asn354Ter)
NM_031935.3(HMCN1):c.9571C>T (p.Arg3191Cys)
NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) rs747242422
NM_138393.4(REEP6):c.517+5G>T
NM_138691.3(TMC1):c.1014C>G (p.Ile338Met)
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.665G>A (p.Gly222Asp)
NM_138691.3(TMC1):c.766T>C (p.Phe256Leu)
NM_144672.4(OTOA):c.795G>T (p.Met265Ile)
NM_152419.3(HGSNAT):c.743G>A (p.Gly248Glu)
NM_152443.3(RDH12):c.704_710del (p.Ser235fs)
NM_174878.3(CLRN1):c.220T>A (p.Cys74Ser)
NM_174916.3(UBR1):c.3513T>G (p.Tyr1171Ter)
NM_178857.6(RP1L1):c.1314_1316dup (p.Gly439_His440insGly)
NM_178857.6(RP1L1):c.4037_4039del (p.Gly1346del)
NM_194248.3(OTOF):c.2977_2978del (p.Gln994fs) rs397515597
NM_194248.3(OTOF):c.5000C>A (p.Ala1667Asp)
NM_201253.3(CRB1):c.1478del (p.Phe493fs)
NM_201253.3(CRB1):c.3326_3329del (p.Tyr1109fs)
NM_201548.5(CERKL):c.1008dup (p.Tyr337fs)
NM_201548.5(CERKL):c.145_146insA (p.Arg49fs)
NM_206933.4(USH2A):c.1144-1G>A
NM_206933.4(USH2A):c.13465G>A (p.Gly4489Ser) rs1293619630
NM_206933.4(USH2A):c.598G>C (p.Val200Leu) rs781022362
NM_206933.4(USH2A):c.8002G>T (p.Glu2668Ter) rs2102460193
NM_206933.4(USH2A):c.9145del (p.Val3049fs)
NM_207352.4(CYP4V2):c.709C>T (p.Pro237Ser)

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