ClinVar Miner

List of variants studied for Retinitis pigmentosa by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

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ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_144596.4(TTC8):c.625-5C>T rs137853922 0.00807
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374 0.00178
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00153
NM_001023570.4(IQCB1):c.1441G>A (p.Glu481Lys) rs140630401 0.00145
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg) rs144498273 0.00088
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749 0.00049
NM_145290.4(ADGRA3):c.2392C>T (p.Leu798Phe) rs149451001 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_014249.4(NR2E3):c.119-2A>C rs2723341 0.00038
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_006017.3(PROM1):c.1911+8G>A rs370302107 0.00033
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys) rs61748442 0.00032
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln) rs28937873 0.00032
NM_000350.3(ABCA4):c.5461-10T>C rs1800728 0.00031
NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter) rs200691042 0.00030
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00030
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017 0.00029
NM_176824.3(BBS7):c.1375C>T (p.Arg459Cys) rs150743868 0.00025
NM_020184.4(CNNM4):c.2130+5G>A rs200517269 0.00024
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_006269.2(RP1):c.3101A>T (p.His1034Leu) rs148296108 0.00016
NM_006269.2(RP1):c.5805T>G (p.Phe1935Leu) rs140137224 0.00016
NM_004183.4(BEST1):c.1063C>T (p.Arg355Cys) rs139637557 0.00013
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter) rs137853137 0.00013
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748 0.00013
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364 0.00012
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_144596.4(TTC8):c.433G>A (p.Ala145Thr) rs540856754 0.00010
NM_002905.5(RDH5):c.208C>T (p.Arg70Trp) rs1058635 0.00009
NM_000260.4(MYO7A):c.3503+12G>A rs78509218 0.00008
NM_000329.3(RPE65):c.1102T>C (p.Tyr368His) rs62653011 0.00008
NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser) rs201471607 0.00007
NM_001252024.2(TRPM1):c.1414C>T (p.Arg472Trp) rs371853965 0.00007
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871 0.00006
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944 0.00006
NM_001297.5(CNGB1):c.976G>C (p.Gly326Arg) rs763165985 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys) rs941588545 0.00006
NM_014249.4(NR2E3):c.481del (p.Thr161fs) rs759339012 0.00006
NM_014249.4(NR2E3):c.646G>A (p.Gly216Ser) rs368098126 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_000539.3(RHO):c.203T>G (p.Leu68Arg) rs137883686 0.00005
NM_025114.4(CEP290):c.1984C>T (p.Gln662Ter) rs386834152 0.00005
NM_001029883.3(PCARE):c.3676G>A (p.Glu1226Lys) rs201781577 0.00004
NM_001201543.2(FAM161A):c.1501del (p.Cys501fs) rs767414973 0.00004
NM_001297.5(CNGB1):c.965C>T (p.Thr322Ile) rs757827406 0.00004
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys) rs62635654 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.7595-2144A>G rs786200928 0.00004
NM_000260.4(MYO7A):c.5929C>T (p.Arg1977Trp) rs781586223 0.00003
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_001142800.2(EYS):c.6714del (p.Ile2239fs) rs752953889 0.00003
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs) rs1326370032 0.00003
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) rs782103396 0.00003
NM_022124.6(CDH23):c.429+4G>A rs397517328 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met) rs28939720 0.00003
NM_206933.4(USH2A):c.1606T>C (p.Cys536Arg) rs111033273 0.00003
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter) rs754768875 0.00003
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000329.3(RPE65):c.130C>T (p.Arg44Ter) rs368088025 0.00002
NM_000539.3(RHO):c.316G>A (p.Gly106Arg) rs104893773 0.00002
NM_000539.3(RHO):c.491C>T (p.Ala164Val) rs104893793 0.00002
NM_001029883.3(PCARE):c.3669-5G>A rs886055920 0.00002
NM_001142800.2(EYS):c.2528G>A (p.Gly843Glu) rs74419361 0.00002
NM_001142800.2(EYS):c.8054G>A (p.Gly2685Glu) rs919157306 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_005802.5(TOPORS):c.2873A>T (p.Glu958Val) rs757527959 0.00002
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp) rs772421550 0.00002
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_144499.3(GNAT1):c.107G>A (p.Gly36Asp) rs772024349 0.00002
NM_201548.5(CERKL):c.481+2T>G rs753994107 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_206933.4(USH2A):c.1391G>A (p.Arg464His) rs771000800 0.00002
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845 0.00002
NM_206933.4(USH2A):c.8254G>A (p.Gly2752Arg) rs201863550 0.00002
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000329.3(RPE65):c.329A>G (p.Asp110Gly) rs1571170561 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000440.3(PDE6A):c.1054C>T (p.Gln352Ter) rs1581190641 0.00001
NM_000440.3(PDE6A):c.1620+1G>A rs781377291 0.00001
NM_000539.3(RHO):c.50C>T (p.Thr17Met) rs104893769 0.00001
NM_001017979.3(RAB28):c.55G>A (p.Gly19Arg) rs1312475876 0.00001
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg) rs373203896 0.00001
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.2570_2571insT (p.Glu857fs) rs775887058 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) rs1302809734 0.00001
NM_006269.2(RP1):c.788-2A>T rs1422250479 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_014249.4(NR2E3):c.166G>A (p.Gly56Arg) rs121912631 0.00001
NM_022124.6(CDH23):c.2767G>A (p.Gly923Ser) rs560251790 0.00001
NM_025114.4(CEP290):c.2691A>G (p.Ile897Met) rs774079924 0.00001
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.13331C>T (p.Pro4444Leu) rs762388072 0.00001
NM_206933.4(USH2A):c.13576C>T (p.Arg4526Ter) rs1003869920 0.00001
NM_206933.4(USH2A):c.9056-2A>G rs754970095 0.00001
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219 0.00001
NM_206933.4(USH2A):c.9799T>C (p.Cys3267Arg) rs111033263 0.00001
NM_000260.4(MYO7A):c.882_886dup (p.Gln296fs) rs1591277785
NM_000260.4(MYO7A):c.93C>A (p.Cys31Ter) rs35689081
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1654del (p.Arg552fs) rs1577296602
NM_000283.4(PDE6B):c.1833-3C>G rs1241323917
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.207dup (p.Ile70fs) rs750147338
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.517G>A (p.Asp173Asn) rs1582780487
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.652T>C (p.Ser218Pro) rs1582764878
NM_000322.5(PRPH2):c.676C>T (p.Gln226Ter) rs61755811
NM_000326.5(RLBP1):c.346G>C (p.Gly116Arg) rs762326108
NM_000328.2(RPGR):c.*644del rs1601890980
NM_000328.3(RPGR):c.2257_2260del (p.Arg753fs) rs1601892395
NM_000328.3(RPGR):c.2405_2406del (p.Pro802fs) rs1601891967
NM_000328.3(RPGR):c.2426_2427del (p.Arg808_Ser809insTer) rs1601891936
NM_000350.3(ABCA4):c.2537A>T (p.Asp846Val) rs779466403
NM_000350.3(ABCA4):c.2613G>A (p.Trp871Ter) rs1570382663
NM_000390.4(CHM):c.3G>A (p.Met1Ile) rs1603288875
NM_000390.4(CHM):c.757C>T (p.Arg253Ter) rs886041178
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter) rs1581180469
NM_000440.3(PDE6A):c.1407+1G>A rs781616522
NM_000440.3(PDE6A):c.1A>G (p.Met1Val) rs976670244
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.612del (p.Lys205fs) rs1265680220
NM_000440.3(PDE6A):c.627+2T>G rs1581211727
NM_000539.3(RHO):c.1033G>T (p.Val345Leu) rs104893795
NM_000539.3(RHO):c.265G>C (p.Gly89Arg) rs1578278354
NM_000539.3(RHO):c.403C>T (p.Arg135Trp) rs104893775
NM_000539.3(RHO):c.533A>G (p.Tyr178Cys) rs104893776
NM_000539.3(RHO):c.541G>A (p.Glu181Lys) rs775557680
NM_000539.3(RHO):c.810C>A (p.Ser270Arg) rs768210562
NM_000539.3(RHO):c.908C>G (p.Pro303Arg) rs1578281100
NM_000539.3(RHO):c.934C>T (p.Gln312Ter) rs1578281136
NM_000541.4:c.513_806del
NM_000554.4:c.(?_-1)_(*1_?)dup
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000883.4(IMPDH1):c.402+1G>T rs1562998089
NM_000883.4(IMPDH1):c.962C>T (p.Ala321Val) rs1584728088
NM_001004334.4(GPR179):c.4835GAG[2] (p.Gly1614del) rs767449258
NM_001023570.4(IQCB1):c.1518_1519del (p.His506fs) rs398123538
NM_001029883.3(PCARE):c.2985dup (p.Pro996fs) rs1572826522
NM_001034853.2(RPGR):c.1179T>G (p.Tyr393Ter) rs1601943462
NM_001034853.2(RPGR):c.1234C>T (p.Arg412Ter) rs1601943268
NM_001034853.2(RPGR):c.1236_1239del (p.Glu414fs) rs1601943227
NM_001034853.2(RPGR):c.1573-3C>G rs1601926845
NM_001034853.2(RPGR):c.1731dup (p.Ala578fs) rs1601926125
NM_001034853.2(RPGR):c.248-2A>G rs62638633
NM_001034853.2(RPGR):c.28+1G>C rs62638627
NM_001034853.2(RPGR):c.492G>T (p.Trp164Cys) rs62638648
NM_001142800.1(EYS):c.(2641+1_2642-1)_(2846+1_2847-1)del
NM_001142800.1(EYS):c.(6078+1_6079-1)_(6191+1_6192-1)dup
NM_001142800.1(EYS):c.6079_6191del
NM_001142800.1:c.(2137+1_2138-1)_(2259+1_2260-1)dup
NM_001142800.2(EYS):c.1211dup (p.Asn404fs) rs764163418
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.232del (p.Cys78fs) rs1468020897
NM_001142800.2(EYS):c.350del (p.Asn117fs) rs1582376609
NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs) rs761238771
NM_001142800.2(EYS):c.4829_4832del (p.Ser1610fs) rs886044304
NM_001142800.2(EYS):c.4957dup (p.Ser1653fs) rs527236065
NM_001142800.2(EYS):c.6591_6594del (p.Lys2198fs) rs1582221424
NM_001142800.2(EYS):c.7412-1G>C rs1167742176
NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs) rs528919874
NM_001142800.2(EYS):c.873T>A (p.Cys291Ter) rs777482895
NM_001242957.3(MAK):c.1143dup (p.Lys382Ter) rs1581697849
NM_001256789.3(CACNA1F):c.818-1G>A rs1602653742
NM_001297.5(CNGB1):c.1345del (p.Ala449fs) rs1596996962
NM_001297.5(CNGB1):c.2085T>A (p.Asp695Glu) rs1596976489
NM_001297.5(CNGB1):c.2166+1G>A rs1596976316
NM_001297.5(CNGB1):c.2271del (p.Asn758fs) rs1596974169
NM_001297.5(CNGB1):c.3131_3149dup (p.Phe1051fs) rs1365926616
NM_001378454.1(ALMS1):c.4147dup (p.Gln1383fs) rs1572934951
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe) rs62625014
NM_001793.6(CDH3):c.3G>A (p.Met1Ile) rs1238109100
NM_003322.6(TULP1):c.1495+6T>C rs1213236285
NM_003322.6(TULP1):c.361G>T (p.Glu121Ter) rs1581744084
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs) rs1578860254
NM_005802.5(TOPORS):c.2554_2557del (p.Glu852fs) rs527236116
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) rs766357803
NM_006017.3(PROM1):c.630+2T>A rs1578097528
NM_006269.2(RP1):c.2026del (p.Ser676fs) rs1585563087
NM_006269.2(RP1):c.2055T>G (p.Tyr685Ter) rs1250214380
NM_006269.2(RP1):c.2115del (p.Gly706fs) rs1585563204
NM_006269.2(RP1):c.2585C>G (p.Ser862Ter) rs1585563965
NM_006269.2(RP1):c.2690_2695del (p.Ser897_Lys899delinsTer) rs1585564175
NM_006269.2(RP1):c.269del (p.His90fs) rs1585557752
NM_006269.2(RP1):c.3688C>T (p.Gln1230Ter) rs879399888
NM_006269.2(RP1):c.4576G>T (p.Glu1526Ter) rs1585567204
NM_006269.2(RP1):c.578G>C (p.Arg193Pro) rs754949406
NM_006269.2(RP1):c.830_831del (p.Ser277fs) rs1585561400
NM_006343.2(MERTK):c.62_482dup
NM_006343.2:c.(?_-1)_(1144+1_1145-1)del
NM_006343.3(MERTK):c.757+1G>A rs1573592124
NM_006343.3(MERTK):c.960+1G>A rs1573607809
NM_006445.4(PRPF8):c.6480_6491del (p.Gly2161_Pro2164del) rs1597224402
NM_006915.3(RP2):c.16_18del (p.Ser6del) rs137852284
NM_006915.3(RP2):c.352C>G (p.Arg118Gly) rs1556318633
NM_006915.3(RP2):c.358C>T (p.Arg120Ter) rs104894927
NM_006915.3(RP2):c.390T>A (p.Cys130Ter) rs1602347792
NM_006915.3(RP2):c.826del (p.Asp276fs) rs1602349705
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014249.4(NR2E3):c.554del (p.Lys185fs) rs1595956455
NM_014249.4(NR2E3):c.626dup (p.Tyr209Ter) rs1595956595
NM_015629.3(PRPF31):c.(238+1_239-1)_(420+1_421-1)dup
NM_015629.3:c.(?_-1)_(*1_?)del
NM_015629.3:c.(?_-1)_(238+1_239-1)del
NM_015629.4(PRPF31):c.1190dup (p.His398fs) rs1600360338
NM_015629.4(PRPF31):c.1222C>T (p.Arg408Trp) rs367896277
NM_015629.4(PRPF31):c.1234del (p.Gln411_Val412insTer) rs1600360654
NM_015629.4(PRPF31):c.421-2A>G rs1600340117
NM_015629.4(PRPF31):c.666_668del (p.Ile223del) rs1600341902
NM_015629.4(PRPF31):c.673del (p.Ala225fs) rs1600341931
NM_015629.4(PRPF31):c.855+1G>T rs1057520752
NM_015629.4(PRPF31):c.961A>T (p.Lys321Ter) rs1600355373
NM_015629.4(PRPF31):c.997del (p.Glu333fs) rs1600355502
NM_022124.6(CDH23):c.5710_5712+3del rs1589420011
NM_024649.5(BBS1):c.1110+3G>C rs762276925
NM_031885.5(BBS2):c.1290dup (p.His431fs) rs777420525
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_032119.4(ADGRV1):c.17195del (p.Pro5732fs) rs1581312596
NM_032119.4(ADGRV1):c.4379-1G>A rs1432643009
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs) rs794727197
NM_152443.3(RDH12):c.226G>T (p.Gly76Trp) rs368489658
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.610A>C (p.Lys204Gln) rs1594866237
NM_152443.3(RDH12):c.697G>T (p.Val233Phe) rs140257538
NM_152618.3(BBS12):c.1223A>G (p.Lys408Arg) rs1578491064
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_153676.4(USH1C):c.238dup (p.Arg80fs) rs397515359
NM_174878.3(CLRN1):c.434-2A>T rs1576623563
NM_198428.3(BBS9):c.115A>G (p.Lys39Glu) rs1584179629
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter) rs115352681
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln) rs1571523755
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter) rs1571525390
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val) rs781705903
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del) rs1571572235
NM_201253.3(CRB1):c.508T>C (p.Tyr170His) rs1571848981
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_206933.2(USH2A):c.(4627+1_4628-1)_(4987+1_4988-1)del
NM_206933.2:c.(11711+1_11712-1)_(*1_?)del
NM_206933.4(USH2A):c.11440G>T (p.Gly3814Ter) rs727505337
NM_206933.4(USH2A):c.12161G>T (p.Ser4054Ile) rs1571953381
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly) rs1558048384
NM_206933.4(USH2A):c.13274C>A (p.Thr4425Lys) rs201238640
NM_206933.4(USH2A):c.13335_13347delinsCTTG (p.Glu4445_Ser4449delinsAspLeu) rs1553252388
NM_206933.4(USH2A):c.13948C>T (p.Gln4650Ter) rs1571945537
NM_206933.4(USH2A):c.2028C>A (p.Cys676Ter) rs1571623023
NM_206933.4(USH2A):c.3005G>C (p.Cys1002Ser) rs1572060087
NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala) rs750077857
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr) rs1571948108
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5473G>T (p.Glu1825Ter) rs1571941589
NM_206933.4(USH2A):c.5546_5547del (p.Ser1849fs) rs1571941465
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg) rs1571744237
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.4(USH2A):c.9370A>G (p.Arg3124Gly) rs1453306308
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe) rs746007103

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