ClinVar Miner

List of variants reported as benign for Usher syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 259
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HGVS dbSNP gnomAD frequency
NM_173477.5(USH1G):c.*371= rs1288389465 0.99999
NM_032119.4(ADGRV1):c.16279G>A (p.Val5427Met) rs2438378 0.97114
NM_032119.4(ADGRV1):c.16031A>G (p.Glu5344Gly) rs2438374 0.93517
NM_032119.4(ADGRV1):c.18625-7T>C rs7726023 0.91136
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_032119.4(ADGRV1):c.10411G>A (p.Glu3471Lys) rs2366928 0.76700
NM_174878.3(CLRN1):c.*315C>T rs1456138 0.76689
NM_174878.3(CLRN1):c.*372C>T rs4680058 0.76596
NM_032119.4(ADGRV1):c.2367+8C>T rs2366773 0.76285
NM_015404.4(WHRN):c.1353T>C (p.Gly451=) rs4979387 0.76260
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_032119.4(ADGRV1):c.3279G>T (p.Leu1093Phe) rs2366777 0.74245
NM_032119.4(ADGRV1):c.7751A>G (p.Asn2584Ser) rs1878878 0.74142
NM_032119.4(ADGRV1):c.5851G>A (p.Val1951Ile) rs4916684 0.73682
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_001384140.1(PCDH15):c.706-8C>T rs10740579 0.71606
NM_000260.4(MYO7A):c.5743-12T>C rs2276291 0.63742
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_000260.4(MYO7A):c.4996A>T (p.Ser1666Cys) rs2276288 0.59864
NM_000260.4(MYO7A):c.5715A>G (p.Lys1905=) rs2276293 0.56709
NM_000260.4(MYO7A):c.5857-7A>T rs1320703 0.56654
NM_032119.4(ADGRV1):c.11682C>T (p.Pro3894=) rs2438349 0.52519
NM_153676.4(USH1C):c.1188A>G (p.Pro396=) rs2240487 0.51629
NM_000260.4(MYO7A):c.3924+12C>T rs2276285 0.51057
NM_000260.4(MYO7A):c.783T>C (p.Gly261=) rs762667 0.50077
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp) rs1064074 0.48497
NM_001195794.1(CLRN1):c.-71A>G rs3796240 0.48434
NM_015404.4(WHRN):c.1838T>C (p.Met613Thr) rs942519 0.47944
NM_000260.4(MYO7A):c.4755C>T (p.Ser1585=) rs7927472 0.47702
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030 0.47208
NM_153676.4(USH1C):c.*211A>G rs1055581 0.45185
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile) rs2247870 0.45079
NM_153676.4(USH1C):c.*46T>C rs1055574 0.44023
NM_153676.4(USH1C):c.*186C>T rs1055577 0.43773
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_015404.4(WHRN):c.2348T>C (p.Val783Ala) rs2274159 0.40624
NM_173477.5(USH1G):c.*1900G>C rs1568448 0.36197
NM_015404.4(WHRN):c.-510G>A rs10759714 0.36192
NM_015404.4(WHRN):c.-391C>A rs4527950 0.35348
NM_032119.4(ADGRV1):c.6695A>G (p.Tyr2232Cys) rs10037067 0.33642
NM_015404.4(WHRN):c.-91C>T rs2297814 0.33038
NM_015404.4(WHRN):c.117G>A (p.Val39=) rs2297815 0.33019
NM_032119.4(ADGRV1):c.5960C>T (p.Pro1987Leu) rs4916685 0.32486
NM_032119.4(ADGRV1):c.7206G>A (p.Glu2402=) rs16876822 0.31193
NM_032119.4(ADGRV1):c.7034A>G (p.Asn2345Ser) rs2366926 0.31179
NM_032119.4(ADGRV1):c.6952-10G>A rs10040165 0.31172
NM_032119.4(ADGRV1):c.9927T>G (p.Pro3309=) rs16869042 0.30112
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_032119.4(ADGRV1):c.11599G>A (p.Glu3867Lys) rs10062026 0.27574
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_000260.4(MYO7A):c.6318G>A (p.Lys2106=) rs11237123 0.24897
NM_032119.4(ADGRV1):c.6012G>T (p.Leu2004Phe) rs16868972 0.23938
NM_001384140.1(PCDH15):c.1263T>C (p.Thr421=) rs7921598 0.23801
NM_015404.4(WHRN):c.1627-12G>A rs2274160 0.23283
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser) rs10825269 0.22813
NM_001384140.1(PCDH15):c.2786G>A (p.Arg929Gln) rs2135720 0.22399
NM_153676.4(USH1C):c.2340C>T (p.Val780=) rs10832796 0.21080
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_032119.4(ADGRV1):c.8538T>G (p.Leu2846=) rs6880570 0.20255
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr) rs4978584 0.19569
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys) rs2274158 0.19185
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala) rs4935502 0.15952
NM_032119.4(ADGRV1):c.13599A>G (p.Thr4533=) rs17554631 0.15645
NM_032119.4(ADGRV1):c.3141A>G (p.Ala1047=) rs950692 0.15398
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp) rs16869032 0.14695
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_033056.4(PCDH15):c.4581C>A (p.Pro1527=) rs10825114 0.12444
NM_153676.4(USH1C):c.2490+12G>C rs2072232 0.12422
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_015404.4(WHRN):c.2283C>T (p.Ser761=) rs34963246 0.12235
NM_174878.3(CLRN1):c.57A>T (p.Ala19=) rs3796242 0.12205
NM_032119.4(ADGRV1):c.18741G>A (p.Gly6247=) rs13158963 0.11513
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_001384140.1(PCDH15):c.157+3A>G rs41274636 0.09581
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala) rs12339210 0.09351
NM_153676.4(USH1C):c.1086-12G>A rs11024318 0.09048
NM_174878.3(CLRN1):c.*884A>C rs12635299 0.08952
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_000260.4(MYO7A):c.*504C>T rs34765389 0.07374
NM_032119.4(ADGRV1):c.5780C>T (p.Thr1927Met) rs17544552 0.06764
NM_032119.4(ADGRV1):c.9280G>A (p.Val3094Ile) rs13157270 0.06417
NM_000260.4(MYO7A):c.593-5C>T rs762666 0.06264
NM_032119.4(ADGRV1):c.4506C>T (p.Pro1502=) rs17543819 0.05741
NM_032119.4(ADGRV1):c.8291C>T (p.Ser2764Leu) rs16869016 0.05655
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_153676.4(USH1C):c.2226+12C>T rs17703528 0.05274
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_032119.4(ADGRV1):c.14905T>C (p.Trp4969Arg) rs7729495 0.04586
NM_032119.4(ADGRV1):c.*60A>G rs41311627 0.04272
NM_032119.4(ADGRV1):c.18475A>G (p.Met6159Val) rs77469944 0.04185
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
NM_174878.3(CLRN1):c.*964C>T rs16863066 0.03941
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03851
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_174878.3(CLRN1):c.6A>C (p.Pro2=) rs111033422 0.03830
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) rs62000408 0.03806
NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val) rs79854148 0.03803
NM_173477.5(USH1G):c.424G>A (p.Glu142Lys) rs111033466 0.03715
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_032119.4(ADGRV1):c.12927G>A (p.Ala4309=) rs35092519 0.03705
NM_000260.4(MYO7A):c.*230A>G rs112830819 0.03507
NM_001384140.1(PCDH15):c.4368-1214G>C rs16937780 0.03481
NM_032119.4(ADGRV1):c.6289C>T (p.Arg2097Cys) rs16868974 0.03455
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_032119.4(ADGRV1):c.10872A>G (p.Gln3624=) rs17624033 0.03213
NM_032119.4(ADGRV1):c.16248C>T (p.Val5416=) rs3763073 0.03149
NM_015404.4(WHRN):c.1515G>A (p.Ala505=) rs34252199 0.03118
NM_000260.4(MYO7A):c.468C>T (p.Ile156=) rs12420129 0.03116
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn) rs1132036 0.03072
NM_000260.4(MYO7A):c.6063G>A (p.Lys2021=) rs111033209 0.03064
NM_032119.4(ADGRV1):c.380T>G (p.Leu127Arg) rs41311333 0.03061
NM_015404.4(WHRN):c.-257C>G rs73555447 0.02919
NM_001384140.1(PCDH15):c.1910A>G (p.Asn637Ser) rs61731389 0.02908
NM_153676.4(USH1C):c.651A>G (p.Val217=) rs75977878 0.02584
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=) rs41298757 0.02519
NM_015404.4(WHRN):c.-204C>G rs145985595 0.02512
NM_000260.4(MYO7A):c.5326+13C>T rs114157944 0.02453
NM_032119.4(ADGRV1):c.9771C>T (p.Ser3257=) rs16869039 0.02440
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_001384140.1(PCDH15):c.960A>G (p.Pro320=) rs41274634 0.02389
NM_173477.5(USH1G):c.*63C>T rs113765180 0.02386
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu) rs111033183 0.02384
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=) rs78871677 0.02377
NM_032119.4(ADGRV1):c.327C>T (p.Asp109=) rs61753944 0.02377
NM_032119.4(ADGRV1):c.8876G>A (p.Arg2959Gln) rs73175207 0.02358
NM_032119.4(ADGRV1):c.11472G>A (p.Leu3824=) rs74327115 0.02341
NM_032119.4(ADGRV1):c.5346A>G (p.Gly1782=) rs10067298 0.02309
NM_153676.4(USH1C):c.294C>T (p.Leu98=) rs34055234 0.02295
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_000260.4(MYO7A):c.288G>A (p.Thr96=) rs56023295 0.02179
NM_015404.4(WHRN):c.*438T>G rs114641960 0.02166
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_001384140.1(PCDH15):c.3374-4C>T rs111739360 0.02123
NM_032119.4(ADGRV1):c.10039T>C (p.Phe3347Leu) rs10067636 0.02108
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_032119.4(ADGRV1):c.581C>A (p.Pro194His) rs61745498 0.02028
NM_032119.4(ADGRV1):c.2001T>C (p.Asp667=) rs9293547 0.01974
NM_173477.5(USH1G):c.*1112C>T rs114353953 0.01972
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231 0.01911
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=) rs80033599 0.01906
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_000260.4(MYO7A):c.*363A>C rs115872143 0.01894
NM_000260.4(MYO7A):c.6052-11G>C rs112564978 0.01883
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_153676.4(USH1C):c.-60T>C rs371444878 0.01736
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_032119.4(ADGRV1):c.-98G>A rs7706355 0.01695
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_032119.4(ADGRV1):c.2735-10C>A rs78625945 0.01665
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_005709.4(USH1C):c.1261G>A (p.Gly421Ser) rs115931035 0.01559
NM_001384140.1(PCDH15):c.3795A>T (p.Glu1265Asp) rs111033496 0.01533
NM_032119.4(ADGRV1):c.11481T>C (p.Asp3827=) rs16869083 0.01524
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_015404.4(WHRN):c.-295C>G rs7861589 0.01478
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_022124.6(CDH23):c.3619G>A (p.Val1207Met) rs111033488 0.01431
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_000260.4(MYO7A):c.286-5C>T rs111033471 0.01415
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567 0.01363
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_001384140.1(PCDH15):c.4368-1207C>T rs74134797 0.01267
NM_032119.4(ADGRV1):c.16164A>G (p.Arg5388=) rs41304884 0.01242
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_032119.4(ADGRV1):c.7293C>T (p.Ala2431=) rs77791584 0.01133
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=) rs78072361 0.01074
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_032119.4(ADGRV1):c.-47G>C rs116110048 0.01017
NM_022124.6(CDH23):c.3574G>A (p.Val1192Ile) rs80028391 0.00999
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_173477.5(USH1G):c.*940C>G rs112293979 0.00971
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_022124.6(CDH23):c.*173C>T rs143222936 0.00719
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_032119.4(ADGRV1):c.14654A>G (p.Asn4885Ser) rs61731030 0.00638
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_001384140.1(PCDH15):c.-5A>G rs142016527 0.00570
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_005709.4(USH1C):c.1243G>A (p.Ala415Thr) rs116996553 0.00479
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_015404.4(WHRN):c.2586C>A (p.His862Gln) rs117592152 0.00424
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_032119.4(ADGRV1):c.16949C>G (p.Thr5650Ser) rs61748627 0.00303
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_033056.4(PCDH15):c.5286T>A (p.Pro1762=) rs58461416 0.00220
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480 0.00142
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944 0.00121
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp) rs117352600 0.00120
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423 0.00096
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.4203C>T (p.Thr1401=) rs202166096 0.00058
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_032119.4(ADGRV1):c.9366A>G (p.Thr3122=) rs200412477 0.00006
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_000260.4(MYO7A):c.1006C>T (p.Arg336Cys) rs369997614 0.00002
NM_032119.4(ADGRV1):c.14319A>G (p.Ile4773Met) rs201953675 0.00002
NM_000260.4(MYO7A):c.1343+8G>A rs2276278
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile) rs948962
NM_000260.4(MYO7A):c.6559-11C>T rs34517202
NM_015404.4(WHRN):c.-314C>T rs57258861
NM_032119.4(ADGRV1):c.5953A>G (p.Asn1985Asp) rs41303352
NM_153676.4(USH1C):c.*419_*420insAACA rs10626485
NM_153676.4(USH1C):c.225T>C (p.Asp75=) rs111033279
NM_174878.3(CLRN1):c.*277GT[13] rs34027634
NM_206933.4(USH2A):c.4627+48A>T rs74874838

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