ClinVar Miner

List of variants reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 554
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs) rs398122391 0.00029
NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro) rs946898300 0.00018
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs) rs748758201 0.00011
NM_001297.5(CNGB1):c.2794+1G>A rs770011113 0.00009
NM_000350.3(ABCA4):c.5329A>T (p.Met1777Leu) rs375184282 0.00008
NM_001298.3(CNGA3):c.667C>T (p.Arg223Trp) rs138958917 0.00008
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys) rs104893620 0.00007
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter) rs373862340 0.00007
NM_025114.4(CEP290):c.6646-11T>G rs1431021703 0.00007
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_007348.4(ATF6):c.970C>T (p.Arg324Cys) rs761357250 0.00006
NM_016247.4(IMPG2):c.3142C>T (p.Arg1048Trp) rs770293441 0.00006
NM_000350.3(ABCA4):c.764G>A (p.Arg255His) rs148387660 0.00005
NM_000541.5(SAG):c.1103-2A>C rs748204331 0.00005
NM_000350.3(ABCA4):c.5198T>C (p.Met1733Thr) rs765563320 0.00004
NM_001201543.2(FAM161A):c.1003C>T (p.Arg335Ter) rs777678022 0.00004
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_006017.3(PROM1):c.1301+2T>C rs775957498 0.00004
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) rs1028838062 0.00004
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970 0.00003
NM_001142800.2(EYS):c.3243+1G>A rs1300490966 0.00003
NM_001297.5(CNGB1):c.2893-7G>A rs749199721 0.00003
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621 0.00003
NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg) rs759079269 0.00003
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) rs761911901 0.00003
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter) rs267606739 0.00003
NM_201253.3(CRB1):c.3307G>A (p.Gly1103Arg) rs62636275 0.00003
NM_206933.4(USH2A):c.949C>A (p.Arg317=) rs111033272 0.00003
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly) rs371911345 0.00002
NM_000883.4(IMPDH1):c.255-2A>G rs1238921380 0.00002
NM_001379270.1(CNGA1):c.1121T>C (p.Val374Ala) rs765792753 0.00002
NM_001379270.1(CNGA1):c.1142G>C (p.Gly381Ala) rs749990018 0.00002
NM_002905.5(RDH5):c.382G>A (p.Asp128Asn) rs377029071 0.00002
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521 0.00002
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter) rs201320564 0.00002
NM_019098.5(CNGB3):c.1578+1G>A rs372006750 0.00002
NM_019098.5(CNGB3):c.1663-1205G>A rs1000861056 0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter) rs768345097 0.00002
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) rs121912545 0.00002
NM_206933.4(USH2A):c.3692G>A (p.Ser1231Asn) rs747578300 0.00002
NM_000329.3(RPE65):c.1451G>T (p.Gly484Val) rs62653015 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.463G>A (p.Asp155Asn) rs1570426424 0.00001
NM_000350.3(ABCA4):c.5113C>T (p.Arg1705Trp) rs771038310 0.00001
NM_000350.3(ABCA4):c.5774G>T (p.Arg1925Ile) rs1208195953 0.00001
NM_001023570.4(IQCB1):c.812del (p.Ser271fs) rs748559081 0.00001
NM_001134831.2(AHI1):c.2988+6T>C rs751303913 0.00001
NM_001142800.2(EYS):c.8035T>G (p.Cys2679Gly) rs1064797324 0.00001
NM_001256789.3(CACNA1F):c.2086-2A>G rs1358925739 0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg) rs2037381055 0.00001
NM_001297.5(CNGB1):c.2603G>A (p.Gly868Asp) rs770961534 0.00001
NM_001297.5(CNGB1):c.2867del (p.Ile956fs) rs1231250334 0.00001
NM_001298.3(CNGA3):c.1320G>A (p.Trp440Ter) rs1553450764 0.00001
NM_001298.3(CNGA3):c.1777G>A (p.Glu593Lys) rs774676415 0.00001
NM_001298.3(CNGA3):c.513G>A (p.Trp171Ter) rs762773298 0.00001
NM_001330691.3(CEP78):c.1424del (p.Val475fs) rs1196886096 0.00001
NM_001377295.2(GNAT2):c.313C>T (p.Arg105Ter) rs1403825722 0.00001
NM_006017.3(PROM1):c.1767+4A>G rs1304065271 0.00001
NM_006017.3(PROM1):c.2077-521A>G rs796051882 0.00001
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) rs756324901 0.00001
NM_006269.2(RP1):c.615+1G>A rs886210482 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_014249.4(NR2E3):c.563C>G (p.Pro188Arg) rs2054189787 0.00001
NM_015072.5(TTLL5):c.211C>T (p.Arg71Ter) rs1439202144 0.00001
NM_016247.4(IMPG2):c.455G>A (p.Gly152Asp) rs867271343 0.00001
NM_016247.4(IMPG2):c.501+5G>A rs1404077542 0.00001
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter) rs764742792 0.00001
NM_019098.5(CNGB3):c.1207C>T (p.Arg403Ter) rs770786127 0.00001
NM_019098.5(CNGB3):c.1255G>T (p.Glu419Ter) rs372302139 0.00001
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr) rs1554619514 0.00001
NM_019098.5(CNGB3):c.644-1G>C rs201794629 0.00001
NM_019098.5(CNGB3):c.756C>G (p.Tyr252Ter) rs371318766 0.00001
NM_019098.5(CNGB3):c.852+1G>C rs1201521544 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_022124.6(CDH23):c.4105-2A>T rs1416386069 0.00001
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) rs751644763 0.00001
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter) rs775710800 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_176824.3(BBS7):c.790G>A (p.Gly264Arg) rs932897330 0.00001
NM_201253.3(CRB1):c.4039del (p.Thr1347fs) rs745422941 0.00001
NM_206933.4(USH2A):c.11129G>A (p.Gly3710Asp) rs764113446 0.00001
NM_206933.4(USH2A):c.11660G>T (p.Trp3887Leu) rs1660298900 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.3812-2A>G rs758733024 0.00001
NC_000002.12:g.98393909_98399093del
NC_000008.11:g.86688947_86688948ins[MF045863.1:g.1_36978]
NC_000008.11:g.86711345_86711346ins[MF045864.2:g.1_98770]
NC_000014.9:g.88362113_88425523delinsTGG
NC_000016.10:g.54716967_54716968ins[54716967_55565004;AGCTAACAAGTAATACCTAACAGTTATTCAGC]
NC_000016.10:g.54801236_55533834dup
NC_000016.10:g.54893325_55501091dup
NM_000154.2(GALK1):c.678del (p.Asn226fs) rs1568395061
NM_000260.4(MYO7A):c.137_138dup (p.Trp47fs) rs1057519225
NM_000260.4(MYO7A):c.1853T>G (p.Leu618Arg) rs1954240719
NM_000260.4(MYO7A):c.1997G>C (p.Arg666Pro) rs782396605
NM_000260.4(MYO7A):c.4852+1G>A rs1956938352
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1401+2T>G rs1736426982
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His) rs1737229618
NM_000283.4(PDE6B):c.177_248dup (p.Leu60_Leu83dup) rs1734061767
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter) rs1761914145
NM_000322.5(PRPH2):c.331del (p.Ile111fs) rs1562434099
NM_000322.5(PRPH2):c.461_464delinsTGGTCT (p.Lys154fs) rs1761908297
NM_000322.5(PRPH2):c.582-1G>C rs1800118693
NM_000322.5(PRPH2):c.653C>A (p.Ser218Ter) rs986748364
NM_000322.5(PRPH2):c.653C>T (p.Ser218Leu) rs986748364
NM_000322.5(PRPH2):c.686_689del (p.Asn229fs) rs1800113541
NM_000322.5(PRPH2):c.738G>A (p.Trp246Ter) rs1800111659
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter) rs61748430
NM_000326.5(RLBP1):c.255_258dup (p.Arg87fs) rs2051588436
NM_000326.5(RLBP1):c.79del (p.Thr27fs) rs1567124404
NM_000329.3(RPE65):c.825C>G (p.Tyr275Ter) rs988133284
NM_000330.4(RS1):c.185-1G>C rs281865344
NM_000330.4(RS1):c.199_206dup (p.Gly70fs) rs1927824776
NM_000330.4(RS1):c.366G>A (p.Trp122Ter) rs61752147
NM_000350.2(ABCA4):c.571_580dup rs1662216783
NM_000350.2(ABCA4):c.[5512C>G;5882G>A]
NM_000350.3(ABCA4):c.1454del (p.Gly485fs) rs1661577361
NM_000350.3(ABCA4):c.1765del (p.Trp589fs) rs1557787559
NM_000350.3(ABCA4):c.1912C>T (p.Pro638Ser) rs754088610
NM_000350.3(ABCA4):c.2012_2013del (p.Val671fs) rs1661098509
NM_000350.3(ABCA4):c.2294G>C (p.Ser765Thr) rs61749429
NM_000350.3(ABCA4):c.2556del (p.Leu852fs) rs1660937747
NM_000350.3(ABCA4):c.2579T>C (p.Val860Ala) rs1660936779
NM_000350.3(ABCA4):c.2588-161_2615del rs1660844326
NM_000350.3(ABCA4):c.2588-7_2588-5delinsGG rs1660845802
NM_000350.3(ABCA4):c.2731_2732del (p.Glu911fs) rs1660761326
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.346_347del (p.Ala116fs) rs1662507319
NM_000350.3(ABCA4):c.3583_3584insGT (p.Leu1195fs) rs1660447204
NM_000350.3(ABCA4):c.3639CCA[1] (p.His1215del) rs1570367398
NM_000350.3(ABCA4):c.3701C>T (p.Pro1234Leu) rs1383231039
NM_000350.3(ABCA4):c.4128G>C (p.Gln1376His) rs1064797113
NM_000350.3(ABCA4):c.4269C>T (p.Gly1423=) rs778456901
NM_000350.3(ABCA4):c.4598T>C (p.Phe1533Ser) rs1557770154
NM_000350.3(ABCA4):c.4635del (p.Ser1545_Leu1546insTer) rs1659954489
NM_000350.3(ABCA4):c.4786dup (p.Arg1596fs) rs1659902823
NM_000350.3(ABCA4):c.4848+1G>T rs1659900228
NM_000350.3(ABCA4):c.4848+2T>A rs1659900155
NM_000350.3(ABCA4):c.517dup (p.Leu173fs) rs1662327418
NM_000350.3(ABCA4):c.5907CCT[3] (p.Leu1971_Gly1972insLeu) rs1659430629
NM_000350.3(ABCA4):c.639del (p.Phe213fs) rs1662213462
NM_000350.3(ABCA4):c.6816+2T>A rs112005636
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) rs1930439753
NM_000390.4(CHM):c.419del (p.Pro140fs) rs1930438584
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) rs1930431885
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) rs1930428430
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1359_1361delinsCC (p.Val454fs) rs1752838269
NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr) rs1581177868
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.1956_1957insTGACAGCATGAGCATGCCGT (p.Arg653Ter) rs1761073125
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) rs1161389116
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln) rs1754418004
NM_000440.3(PDE6A):c.743T>A (p.Val248Asp) rs1581209421
NM_000539.3(RHO):c.1032G>C (p.Gln344His) rs749753555
NM_000539.3(RHO):c.218A>G (p.Asn73Ser) rs779169631
NM_000541.5(SAG):c.136+2T>G rs1233480483
NM_000541.5(SAG):c.75G>A (p.Ser25=) rs1484802068
NM_000541.5(SAG):c.806+4A>G rs749633616
NM_001029883.3(PCARE):c.1804_1805del (p.His603fs) rs1667508280
NM_001029883.3(PCARE):c.2380dup (p.Met794fs) rs1572827477
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer) rs1784160131
NM_001034853.2(RPGR):c.1217dup (p.Ser407fs) rs1601943325
NM_001034853.2(RPGR):c.133G>T (p.Glu45Ter) rs1555968524
NM_001034853.2(RPGR):c.154+1G>A rs2067985165
NM_001034853.2(RPGR):c.1754-15_1754-5del rs2067203546
NM_001034853.2(RPGR):c.1966dup (p.Asp656fs) rs2067198376
NM_001034853.2(RPGR):c.2038_2056del (p.Asp680fs) rs1601924111
NM_001034853.2(RPGR):c.2059dup (p.Glu687fs) rs2067194747
NM_001034853.2(RPGR):c.2083G>T (p.Glu695Ter) rs2067193671
NM_001034853.2(RPGR):c.2123A>G (p.Glu708Gly) rs2067192032
NM_001034853.2(RPGR):c.2143_2144del (p.Arg715fs) rs2067191541
NM_001034853.2(RPGR):c.2236_2237del (p.Glu746fs) rs1555961852
NM_001034853.2(RPGR):c.2321_2348del (p.Glu774fs) rs2067185063
NM_001034853.2(RPGR):c.2346del (p.Lys783fs) rs1064797365
NM_001034853.2(RPGR):c.2410A>T (p.Arg804Ter) rs1601922877
NM_001034853.2(RPGR):c.2416G>T (p.Glu806Ter) rs1555961787
NM_001034853.2(RPGR):c.2447del (p.Gly816fs) rs1854473658
NM_001034853.2(RPGR):c.2461G>T (p.Glu821Ter) rs2067180233
NM_001034853.2(RPGR):c.2527dup (p.Glu843fs) rs2067175855
NM_001034853.2(RPGR):c.255del (p.Lys85fs) rs1555968248
NM_001034853.2(RPGR):c.2605G>T (p.Glu869Ter) rs1555961677
NM_001034853.2(RPGR):c.2622_3056del (p.Gly876_Glu1020del) rs2067126569
NM_001034853.2(RPGR):c.2647G>T (p.Gly883Ter) rs1555961624
NM_001034853.2(RPGR):c.2735del (p.Gly912fs) rs2067159265
NM_001034853.2(RPGR):c.2887del (p.Glu963fs) rs1064797364
NM_001034853.2(RPGR):c.2899dup (p.Glu967fs) rs1569235999
NM_001034853.2(RPGR):c.29-1G>T rs2067987832
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.3049G>T (p.Glu1017Ter) rs2067127275
NM_001034853.2(RPGR):c.3077_3080del (p.Glu1026fs) rs2067124487
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) rs1601917999
NM_001034853.2(RPGR):c.3175del (p.Arg1059fs) rs2067117666
NM_001034853.2(RPGR):c.3373C>T (p.Gln1125Ter) rs1601917052
NM_001034853.2(RPGR):c.389T>C (p.Phe130Ser) rs62638644
NM_001034853.2(RPGR):c.602A>T (p.His201Leu) rs2067845149
NM_001034853.2(RPGR):c.907G>T (p.Gly303Ter) rs2067562201
NM_001034853.2(RPGR):c.935-1G>T rs2067498051
NM_001042432.2(CLN3):c.1197+2T>A rs2046020472
NM_001042432.2(CLN3):c.370del (p.Tyr124fs) rs1555468920
NM_001042432.2(CLN3):c.676A>G (p.Ser226Gly) rs1555468695
NM_001042432.2(CLN3):c.922_923del (p.Phe308fs) rs2046113301
NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr) rs2074970792
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs) rs1286660951
NM_001142800.2(EYS):c.2055T>A (p.Cys685Ter) rs372354156
NM_001142800.2(EYS):c.2420del (p.Ser807fs) rs1768038999
NM_001142800.2(EYS):c.2499T>G (p.Phe833Leu) rs1554217626
NM_001142800.2(EYS):c.5413C>T (p.Gln1805Ter) rs1766367970
NM_001142800.2(EYS):c.5802dup (p.Ile1935fs) rs1455826633
NM_001142800.2(EYS):c.6174T>G (p.Tyr2058Ter) rs1769471082
NM_001142800.2(EYS):c.6544_6547del (p.Asn2182fs) rs1488052513
NM_001142800.2(EYS):c.67dup (p.Thr23fs) rs1766217655
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.732T>A (p.Cys244Ter) rs1562220891
NM_001142800.2(EYS):c.749-1G>C rs368159852
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001164665.2(KIAA1549):c.3993del (p.Gln1332fs) rs1554417054
NM_001201543.2(FAM161A):c.1205C>G (p.Ser402Ter) rs1553354522
NM_001201543.2(FAM161A):c.1212T>A (p.Cys404Ter) rs4672457
NM_001201543.2(FAM161A):c.847C>T (p.Arg283Ter) rs748847284
NM_001242957.3(MAK):c.1632del (p.Cys545fs) rs1773160727
NM_001242957.3(MAK):c.1700_1703del (p.Asn567fs) rs1347914291
NM_001256789.3(CACNA1F):c.1118+1G>C rs2065841382
NM_001256789.3(CACNA1F):c.4471C>T (p.Arg1491Ter) rs782581701
NM_001256789.3(CACNA1F):c.5372C>T (p.Ser1791Phe) rs1602621312
NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys) rs2037751886
NM_001297.5(CNGB1):c.315G>A (p.Trp105Ter) rs1420628245
NM_001298.3(CNGA3):c.1217T>C (p.Met406Thr) rs1553450734
NM_001298.3(CNGA3):c.1255T>C (p.Ser419Pro) rs371558158
NM_001298.3(CNGA3):c.1320del (p.Trp440fs) rs1553450762
NM_001298.3(CNGA3):c.332_333delinsAA (p.Ser111Ter) rs1692508715
NM_001298.3(CNGA3):c.340G>T (p.Glu114Ter) rs1692509021
NM_001298.3(CNGA3):c.464del (p.Lys155fs) rs2104229154
NM_001298.3(CNGA3):c.499del (p.Leu167fs) rs1692739030
NM_001298.3(CNGA3):c.625T>C (p.Ser209Pro) rs1692799480
NM_001298.3(CNGA3):c.704A>T (p.Asp235Val) rs1692898861
NM_001298.3(CNGA3):c.906G>T (p.Arg302Ser) rs749853484
NM_001298.3(CNGA3):c.985G>T (p.Gly329Cys) rs1558820134
NM_001312673.2(PCYT1A):c.471C>G (p.Phe157Leu) rs1577358031
NM_001330691.3(CEP78):c.1400_1402delinsCTTT (p.Leu467fs) rs1827340429
NM_001377295.2(GNAT2):c.235C>T (p.Gln79Ter) rs121434585
NM_001377295.2(GNAT2):c.285_291delinsCTGTAT (p.Ala96fs) rs1557920291
NM_001377295.2(GNAT2):c.303+365_461+974del
NM_001377295.2(GNAT2):c.303+365_461+974dup
NM_001377295.2(GNAT2):c.503dup (p.Pro169_Ser170insTer) rs1557918911
NM_001377295.2(GNAT2):c.591-2A>C rs1557918638
NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val) rs1557918619
NM_001377295.2(GNAT2):c.720+2T>C rs1557918544
NM_001377295.2(GNAT2):c.803_806dup (p.Lys270fs) rs1557917899
NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His) rs757147586
NM_001377295.2(GNAT2):c.955del (p.Ile319fs) rs1557917535
NM_001378454.1(ALMS1):c.10146dup (p.Ser3383fs) rs1553416872
NM_001378454.1(ALMS1):c.547del (p.Glu183fs) rs1671239184
NM_001378454.1(ALMS1):c.7132C>T (p.Leu2378Phe) rs768751472
NM_001378454.1(ALMS1):c.7786C>T (p.Gln2596Ter) rs1672934629
NM_001379270.1(CNGA1):c.1028G>C (p.Arg343Thr) rs752003888
NM_001379270.1(CNGA1):c.1093C>A (p.Pro365Thr) rs867483436
NM_001379270.1(CNGA1):c.1210_1214del (p.Ala404fs) rs1738719686
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu) rs1582323732
NM_001384910.1(GUCA1A):c.443A>C (p.Asp148Ala) rs1554186472
NM_001563.4(IMPG1):c.1291+1G>T rs1433546528
NM_001563.4(IMPG1):c.378G>A (p.Trp126Ter) rs373792616
NM_001563.4(IMPG1):c.807+1G>C rs713993046
NM_002602.4(PDE6G):c.206del (p.Pro69fs) rs1555692916
NM_002900.3(RBP3):c.3050T>A (p.Met1017Lys) rs1836974640
NM_002900.3(RBP3):c.467G>C (p.Trp156Ser) rs1555210929
NM_003322.6(TULP1):c.1201C>T (p.Gln401Ter) rs1761021773
NM_003322.6(TULP1):c.1268T>C (p.Val423Ala) rs1554125521
NM_003322.6(TULP1):c.1523G>A (p.Arg508His) rs1768754157
NM_004183.4(BEST1):c.1315C>T (p.Gln439Ter) rs1942169028
NM_004183.4(BEST1):c.247+2del rs1565387045
NM_004183.4(BEST1):c.37C>G (p.Arg13Gly) rs886041141
NM_004183.4(BEST1):c.712del (p.Gln238fs) rs1555100476
NM_004183.4(BEST1):c.851A>T (p.Tyr284Phe) rs727503824
NM_004385.5(VCAN):c.4004-2A>C rs80356555
NM_004698.4(PRPF3):c.1283-2A>G rs1572263399
NM_004698.4(PRPF3):c.1496A>C (p.His499Pro) rs1658062720
NM_004744.5(LRAT):c.487C>G (p.His163Asp) rs1010347467
NM_004928.3(CFAP410):c.335_346del (p.Leu112_Leu115del) rs769039082
NM_005802.5(TOPORS):c.3090dup (p.Thr1031fs) rs1257671376
NM_006017.3(PROM1):c.1578+1G>A rs1553901823
NM_006017.3(PROM1):c.2211+1G>A rs1719285721
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) rs1717541693
NM_006204.4(PDE6C):c.1269+1G>A rs1554889905
NM_006204.4(PDE6C):c.497del (p.Asp166fs) rs1554888848
NM_006204.4(PDE6C):c.78del (p.Lys27fs) rs1554888353
NM_006204.4(PDE6C):c.857del (p.Lys286fs) rs1554888978
NM_006269.2(RP1):c.188T>C (p.Phe63Ser) rs369919266
NM_006269.2(RP1):c.2108del (p.Asn703fs) rs1806033536
NM_006269.2(RP1):c.2113A>T (p.Lys705Ter) rs1806033844
NM_006269.2(RP1):c.2613dup (p.Arg872fs) rs1449723475
NM_006269.2(RP1):c.2700dup (p.Pro901fs) rs797044735
NM_006269.2(RP1):c.3690del (p.Gly1231fs) rs1554519822
NM_006269.2(RP1):c.4218_4221del (p.Glu1407fs) rs1806128576
NM_006343.3(MERTK):c.1689_1690+5delinsATATTA rs1676864299
NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr) rs1677512620
NM_006343.3(MERTK):c.844+2dup rs1553452169
NM_006343.3(MERTK):c.961-1G>T rs1676223605
NM_006445.4(PRPF8):c.5803C>T (p.Arg1935Cys) rs1911322255
NM_006445.4(PRPF8):c.6377G>A (p.Gly2126Glu) rs1360391558
NM_006445.4(PRPF8):c.6651-3C>A rs1467838102
NM_006445.4(PRPF8):c.6966G>T (p.Glu2322Asp) rs766407266
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs) rs1064797215
NM_006915.3(RP2):c.201_202del (p.Cys67_Glu68delinsTer) rs1924897691
NM_006915.3(RP2):c.365G>A (p.Cys122Tyr) rs1556318642
NM_006915.3(RP2):c.40del (p.Glu14fs) rs1924521431
NM_006915.3(RP2):c.529_533del (p.Phe177fs) rs1924907742
NM_006915.3(RP2):c.969+1dup rs1925391988
NM_007348.4(ATF6):c.1110dup (p.Val371fs) rs797045174
NM_007348.4(ATF6):c.1187+5G>C rs761129859
NM_007348.4(ATF6):c.1533+1G>C rs797045172
NM_007348.4(ATF6):c.1699T>A (p.Tyr567Asn) rs796065053
NM_007348.4(ATF6):c.353del (p.Pro118fs) rs797045171
NM_007348.4(ATF6):c.797dup (p.Pro266_Asn267insTer) rs797045173
NM_007348.4(ATF6):c.82+5G>T rs797045170
NM_014014.5(SNRNP200):c.1462C>T (p.Leu488Phe) rs771467567
NM_014014.5(SNRNP200):c.3859C>T (p.Arg1287Trp) rs1004264460
NM_014014.5(SNRNP200):c.5654A>G (p.Asn1885Ser) rs1295558388
NM_014014.5(SNRNP200):c.583A>G (p.Ile195Val) rs1574001405
NM_014053.4(FLVCR1):c.1318_1321del (p.Thr440fs) rs1572027164
NM_014053.4(FLVCR1):c.971C>A (p.Ser324Ter) rs1558112968
NM_014249.4(NR2E3):c.406G>T (p.Glu136Ter) rs1257334132
NM_014249.4(NR2E3):c.994G>C (p.Glu332Gln) rs2054205040
NM_014336.5(AIPL1):c.238C>T (p.Arg80Trp) rs748210823
NM_014336.5(AIPL1):c.34dup (p.Val12fs) rs752193525
NM_014989.7(RIMS1):c.3194+1G>A rs1057519205
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015072.5(TTLL5):c.630C>A (p.Tyr210Ter) rs745934202
NM_015629.4(PRPF31):c.1067_1073+8del rs2073964950
NM_015629.4(PRPF31):c.1074-2A>G rs1314226094
NM_015629.4(PRPF31):c.1118_1127del (p.Lys373fs) rs2073970897
NM_015629.4(PRPF31):c.1141G>T (p.Gly381Ter) rs2073971805
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His) rs1600360827
NM_015629.4(PRPF31):c.176_177insTA (p.Met59fs) rs2073704298
NM_015629.4(PRPF31):c.178-2A>G rs2073708638
NM_015629.4(PRPF31):c.279dup (p.Val94fs) rs1600335148
NM_015629.4(PRPF31):c.371_375del (p.Glu124fs) rs2073818085
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn) rs1555792445
NM_015629.4(PRPF31):c.539C>A (p.Ser180Ter) rs1411470197
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs) rs1555792879
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs) rs2073701678
NM_015629.4(PRPF31):c.953_959del (p.Gly317_Tyr318insTer) rs2073962058
NM_015629.4(PRPF31):c.954_955dup (p.Glu319fs) rs2073962186
NM_015629.4(PRPF31):c.96_102del (p.Ile32fs) rs2073702243
NM_016247.4(IMPG2):c.1045del (p.Tyr349fs) rs1706625164
NM_016247.4(IMPG2):c.188_191del (p.Lys63fs) rs2058802102
NM_016247.4(IMPG2):c.533+4_533+7del rs1707008452
NM_016247.4(IMPG2):c.634del (p.Ser212fs) rs1706833794
NM_016247.4(IMPG2):c.666+5G>A rs775105637
NM_018474.6(KIZ):c.251_258del (p.Phe84fs) rs1254494198
NM_019098.4(CNGB3):c.(1578+1_1579-1)_(*1_?)del
NM_019098.4(CNGB3):c.(338+1_339-1)_(*1_?)del
NM_019098.4(CNGB3):c.(?_-1)_(129+1_130-1)del
NM_019098.4(CNGB3):c.1430_1431delinsC (p.Lys477fs) rs1554610279
NM_019098.4(CNGB3):c.1534delinsGT (p.Ile512fs) rs1554609956
NM_019098.4(CNGB3):c.393_394delinsTCCTGGTGA (p.Gln131fs) rs1554614423
NM_019098.4(CNGB3):c.702_706delinsGTTTTT (p.Cys234fs) rs1554614024
NM_019098.4(CNGB3):c.706delinsTT (p.Ile236fs) rs1554614022
NM_019098.4(CNGB3):c.852+4013_903+1698dup
NM_019098.4(CNGB3):c.873delinsCAAAC (p.Arg291fs) rs1554612806
NM_019098.4(CNGB3):c.904-2824_1782-8208delins[KY923049.1:g.1_466]
NM_019098.5(CNGB3):c.1005dup (p.Glu336Ter) rs1554611860
NM_019098.5(CNGB3):c.1055+1G>C rs1823261605
NM_019098.5(CNGB3):c.1056-2A>G rs1385347376
NM_019098.5(CNGB3):c.1119G>A (p.Trp373Ter) rs786204762
NM_019098.5(CNGB3):c.112C>T (p.Gln38Ter) rs786204498
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.5(CNGB3):c.1194T>G (p.Tyr398Ter) rs775038513
NM_019098.5(CNGB3):c.1243C>T (p.Gln415Ter) rs1554610668
NM_019098.5(CNGB3):c.1285del (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs) rs776896038
NM_019098.5(CNGB3):c.129+2T>C rs1554619498
NM_019098.5(CNGB3):c.1299_1300del (p.Phe434fs) rs1554610655
NM_019098.5(CNGB3):c.130-1G>T rs1554619303
NM_019098.5(CNGB3):c.1304C>T (p.Ser435Phe) rs121918344
NM_019098.5(CNGB3):c.1366del (p.Arg456fs) rs1057516878
NM_019098.5(CNGB3):c.1426C>T (p.Gln476Ter) rs1554610284
NM_019098.5(CNGB3):c.1460G>A (p.Trp487Ter) rs999921351
NM_019098.5(CNGB3):c.1480+1G>A rs1057516825
NM_019098.5(CNGB3):c.1493del (p.Leu498fs) rs773381712
NM_019098.5(CNGB3):c.1516del (p.Val506fs) rs768735888
NM_019098.5(CNGB3):c.1566_1569dup (p.Leu524fs) rs1554609946
NM_019098.5(CNGB3):c.1578+1G>T rs372006750
NM_019098.5(CNGB3):c.1579-1G>A rs1057516504
NM_019098.5(CNGB3):c.1579-2A>G rs772725807
NM_019098.5(CNGB3):c.1635T>A (p.Tyr545Ter) rs1554608319
NM_019098.5(CNGB3):c.1663-2137C>T rs998703203
NM_019098.5(CNGB3):c.1663-2660_1781+5516del
NM_019098.5(CNGB3):c.1781+1G>A rs1375507464
NM_019098.5(CNGB3):c.1781+1G>C rs1375507464
NM_019098.5(CNGB3):c.1781+1del rs1554607546
NM_019098.5(CNGB3):c.1782-2A>C rs1554604851
NM_019098.5(CNGB3):c.1782-3723_2103+739del
NM_019098.5(CNGB3):c.1815del (p.Ala606fs) rs1362472371
NM_019098.5(CNGB3):c.190del (p.Glu64fs) rs1554619292
NM_019098.5(CNGB3):c.208C>T (p.Gln70Ter) rs1052078370
NM_019098.5(CNGB3):c.2103+1G>A rs1554604767
NM_019098.5(CNGB3):c.212-2527_338+2854del
NM_019098.5(CNGB3):c.2221del (p.Asp741fs) rs1554604552
NM_019098.5(CNGB3):c.2359del (p.Ser787fs) rs1554604525
NM_019098.5(CNGB3):c.257del (p.Pro86fs) rs1554618420
NM_019098.5(CNGB3):c.265C>T (p.Gln89Ter) rs1554618417
NM_019098.5(CNGB3):c.281_284del (p.Pro94fs) rs1554618413
NM_019098.5(CNGB3):c.29dup (p.Val11fs) rs1442286151
NM_019098.5(CNGB3):c.301C>T (p.Gln101Ter) rs1554618404
NM_019098.5(CNGB3):c.31dup (p.Val11fs) rs1554619509
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter) rs786204492
NM_019098.5(CNGB3):c.3G>A (p.Met1Ile) rs1554619513
NM_019098.5(CNGB3):c.494-2A>T rs1554614157
NM_019098.5(CNGB3):c.589_590del (p.Leu197fs) rs1554614131
NM_019098.5(CNGB3):c.643+2T>C rs1391492794
NM_019098.5(CNGB3):c.682dup (p.Ala228fs) rs1554614038
NM_019098.5(CNGB3):c.702T>A (p.Cys234Ter) rs6471482
NM_019098.5(CNGB3):c.791_794del (p.Tyr264fs) rs1554613998
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_019098.5(CNGB3):c.882C>G (p.Tyr294Ter) rs1554612805
NM_019098.5(CNGB3):c.886_896delinsT (p.Thr296fs) rs886063161
NM_019098.5(CNGB3):c.904-2A>T rs1554612159
NM_019098.5(CNGB3):c.926C>T (p.Pro309Leu) rs1554612145
NM_019098.5(CNGB3):c.95dup (p.His32fs) rs1554619500
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2432T>A (p.Leu811His) rs1883036406
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.801-25_843del rs1566674809
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_022124.6(CDH23):c.6449del (p.Gly2150fs) rs1564796673
NM_022124.6(CDH23):c.8053G>T (p.Ala2685Ser) rs1362644811
NM_022124.6(CDH23):c.9077+1G>A rs1841885880
NM_022124.6(CDH23):c.9284dup (p.Arg3096fs) rs1564808024
NM_022367.4(SEMA4A):c.745dup (p.Glu249fs) rs1653548589
NM_022367.4(SEMA4A):c.985C>T (p.Gln329Ter) rs1249149946
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) rs1641970512
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) rs1555049194
NM_024649.5(BBS1):c.1608+1G>A rs1856758582
NM_024649.5(BBS1):c.41C>G (p.Ala14Gly) rs774110999
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024685.4(BBS10):c.1603_1606del (p.Asp535fs) rs1951757988
NM_024685.4(BBS10):c.578T>C (p.Leu193Ser) rs1951767864
NM_025114.4(CEP290):c.102+1G>T rs2040637111
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.2682dup (p.Ser895fs) rs1555216730
NM_025114.4(CEP290):c.3462dup (p.Leu1155fs) rs2037140260
NM_025114.4(CEP290):c.4029+1G>A rs2036808766
NM_025114.4(CEP290):c.43C>G (p.Pro15Ala) rs1425716932
NM_025114.4(CEP290):c.5803G>T (p.Glu1935Ter) rs886042360
NM_031220.4(PITPNM3):c.1657_1660dup (p.Tyr554Ter) rs1905007623
NM_031885.5(BBS2):c.413T>G (p.Ile138Ser) rs1386789664
NM_032119.4(ADGRV1):c.14315C>G (p.Ser4772Ter) rs1561740143
NM_032119.4(ADGRV1):c.2241-2A>G rs929034631
NM_032119.4(ADGRV1):c.3195dup (p.Gly1066fs) rs1767988429
NM_032603.5(LOXL3):c.1330_1332del (p.Leu444del) rs574365163
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033028.5(BBS4):c.129T>G (p.Tyr43Ter) rs2065331681
NM_033380.3(COL4A5):c.2315G>T (p.Gly772Val) rs104886173
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter) rs138924201
NM_133497.4(KCNV2):c.1356+3_1356+6del rs748084580
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys) rs140256288
NM_152443.3(RDH12):c.599A>C (p.Tyr200Ser) rs1163040913
NM_152564.5(VPS13B):c.5980_5981del (p.Asp1994fs) rs1830219226
NM_152564.5(VPS13B):c.8037C>G (p.Tyr2679Ter) rs777019428
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter) rs1205613982
NM_153676.4(USH1C):c.263del (p.Val88fs) rs1850961650
NM_153676.4(USH1C):c.580-2A>T rs1850678559
NM_153676.4(USH1C):c.841_848del (p.Ser281fs) rs1064797153
NM_172240.3(POC1B):c.560+2T>G rs1882924778
NM_172364.5(CACNA2D4):c.1589_1593del (p.Val530fs) rs772592088
NM_173477.5(USH1G):c.208_209insTC (p.His70fs) rs1555627787
NM_201253.3(CRB1):c.1171+2T>G rs1660519681
NM_201253.3(CRB1):c.1483del (p.Trp495fs) rs1664301074
NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln) rs1057519162
NM_201253.3(CRB1):c.2072G>A (p.Trp691Ter) rs1558127317
NM_201253.3(CRB1):c.2133T>A (p.Tyr711Ter) rs772794324
NM_201253.3(CRB1):c.2230C>T (p.Arg744Ter) rs150412614
NM_201253.3(CRB1):c.2673C>A (p.Cys891Ter) rs759662695
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2809G>C (p.Ala937Pro) rs114630940
NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro) rs1553262957
NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu) rs1064797128
NM_201253.3(CRB1):c.3934T>A (p.Cys1312Ser) rs771257822
NM_201253.3(CRB1):c.410del (p.Pro137fs) rs1558057153
NM_201253.3(CRB1):c.70+1G>A rs1237424465
NM_201253.3(CRB1):c.733del (p.Ala245fs) rs1659645978
NM_201253.3(CRB1):c.803_806del (p.Ser268fs) rs1659651471
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_201548.5(CERKL):c.1564T>G (p.Tyr522Asp) rs1201433512
NM_201548.5(CERKL):c.541_542delinsTT (p.Glu181Leu) rs1689012192
NM_206933.2(USH2A):c.10974_10975dup(p.Thr3659Ilefs) rs1064797133
NM_206933.4(USH2A):c.10495C>A (p.Pro3499Thr) rs1553261461
NM_206933.4(USH2A):c.10721G>T (p.Gly3574Val) rs1259758261
NM_206933.4(USH2A):c.1143+1G>A rs397517974
NM_206933.4(USH2A):c.11699A>T (p.Tyr3900Phe) rs1386612395
NM_206933.4(USH2A):c.12333dup (p.Gly4112fs) rs1657996197
NM_206933.4(USH2A):c.12418T>G (p.Cys4140Gly) rs1657992030
NM_206933.4(USH2A):c.12855G>A (p.Trp4285Ter) rs1657965422
NM_206933.4(USH2A):c.12892T>A (p.Tyr4298Asn) rs1064797130
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13804T>C (p.Phe4602Leu) rs755099565
NM_206933.4(USH2A):c.13898del (p.Pro4632_Leu4633insTer) rs1553252052
NM_206933.4(USH2A):c.14011_14025del (p.Glu4671_Arg4675del) rs1657799383
NM_206933.4(USH2A):c.14129A>C (p.Tyr4710Ser) rs1064797129
NM_206933.4(USH2A):c.14650G>T (p.Glu4884Ter) rs948087886
NM_206933.4(USH2A):c.14761G>T (p.Glu4921Ter) rs754834155
NM_206933.4(USH2A):c.14895del (p.Val4965_Leu4966insTer) rs1656646424
NM_206933.4(USH2A):c.15063_15081delinsGC (p.Thr5022fs) rs1656419435
NM_206933.4(USH2A):c.1521_1522delinsAT (p.Tyr507_Ala508delinsTer) rs1571701069
NM_206933.4(USH2A):c.1986T>A (p.Cys662Ter) rs2036152207
NM_206933.4(USH2A):c.2080T>A (p.Cys694Ser) rs2036149054
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.2444G>C (p.Cys815Ser) rs1558341842
NM_206933.4(USH2A):c.2953T>C (p.Cys985Arg) rs1171264735
NM_206933.4(USH2A):c.3221G>A (p.Trp1074Ter) rs1064797138
NM_206933.4(USH2A):c.3381del (p.Thr1128fs) rs2034948574
NM_206933.4(USH2A):c.3461T>C (p.Leu1154Ser) rs1064797137
NM_206933.4(USH2A):c.4184_4185del (p.Val1395fs) rs2034850724
NM_206933.4(USH2A):c.4210G>T (p.Glu1404Ter) rs2034849647
NM_206933.4(USH2A):c.4365T>G (p.Ser1455Arg) rs1553312493
NM_206933.4(USH2A):c.4628-2A>G rs2032462132
NM_206933.4(USH2A):c.4943T>C (p.Leu1648Pro) rs1558251712
NM_206933.4(USH2A):c.4946G>A (p.Gly1649Glu) rs1558251710
NM_206933.4(USH2A):c.4949G>C (p.Gly1650Ala) rs1558251708
NM_206933.4(USH2A):c.5594A>T (p.Asp1865Val) rs760543320
NM_206933.4(USH2A):c.55del (p.Met19fs) rs2039692173
NM_206933.4(USH2A):c.575A>C (p.Asn192Thr) rs2039616380
NM_206933.4(USH2A):c.5777-2A>C rs1064797136
NM_206933.4(USH2A):c.5877del (p.Ser1961fs) rs727505343
NM_206933.4(USH2A):c.6127_6128dup (p.Ser2043fs) rs2030619513
NM_206933.4(USH2A):c.668T>C (p.Ile223Thr) rs2038569132
NM_206933.4(USH2A):c.6835G>T (p.Asp2279Tyr) rs1421761057
NM_206933.4(USH2A):c.7027del (p.Arg2343fs) rs1667316878
NM_206933.4(USH2A):c.7040T>A (p.Val2347Glu) rs1667316070
NM_206933.4(USH2A):c.8638_8641dup (p.Ser2881fs) rs1553272035
NM_206933.4(USH2A):c.8782G>T (p.Gly2928Ter) rs1664490756
NM_206933.4(USH2A):c.9682C>T (p.Gln3228Ter) rs1662772955
NM_206933.4(USH2A):c.993_994del (p.Arg331fs) rs1571703801
Single allele

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