ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for Retinal dystrophy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.12557T>C (p.Ile4186Thr) rs112120466 0.00159
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.6347A>G (p.His2116Arg) rs111033450 0.00076
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00056
NM_206933.4(USH2A):c.1961T>C (p.Leu654Pro) rs1321779316 0.00056
NM_206933.4(USH2A):c.8320G>A (p.Ala2774Thr) rs111033533 0.00054
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.15029A>T (p.Gln5010Leu) rs138640647 0.00027
NM_206933.4(USH2A):c.6998T>C (p.Val2333Ala) rs144817385 0.00020
NM_206933.4(USH2A):c.5608C>T (p.Arg1870Trp) rs144768593 0.00019
NM_206933.4(USH2A):c.5179C>T (p.Leu1727Phe) rs368058316 0.00018
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.14368C>A (p.Gln4790Lys) rs779057575 0.00014
NM_206933.4(USH2A):c.3375T>G (p.Ile1125Met) rs143319658 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_206933.4(USH2A):c.9992T>A (p.Met3331Lys) rs141452179 0.00014
NM_206933.4(USH2A):c.6801G>A (p.Pro2267=) rs375235470 0.00012
NM_206933.4(USH2A):c.13478G>A (p.Arg4493His) rs138879998 0.00011
NM_206933.4(USH2A):c.14516C>T (p.Thr4839Met) rs139065588 0.00011
NM_206933.4(USH2A):c.5890C>T (p.Arg1964Cys) rs148049006 0.00011
NM_206933.4(USH2A):c.1674C>T (p.Asp558=) rs778757759 0.00010
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.4618G>A (p.Asp1540Asn) rs752238803 0.00009
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206933.4(USH2A):c.7787A>G (p.Tyr2596Cys) rs371685066 0.00008
NM_206933.4(USH2A):c.10388A>G (p.Asp3463Gly) rs146014881 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.7679A>G (p.Asn2560Ser) rs370155266 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.8790T>G (p.Asn2930Lys) rs754774098 0.00006
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_206933.4(USH2A):c.8710G>A (p.Val2904Ile) rs142649882 0.00005
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.13484G>A (p.Arg4495His) rs550096037 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.8146G>A (p.Glu2716Lys) rs531822235 0.00004
NM_206933.4(USH2A):c.997T>C (p.Ser333Pro) rs368986242 0.00004
NM_206933.4(USH2A):c.12701C>T (p.Thr4234Met) rs564240175 0.00003
NM_206933.4(USH2A):c.13348C>T (p.Pro4450Ser) rs141696914 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.3665C>T (p.Ala1222Val) rs200081251 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.8576G>A (p.Arg2859His) rs778272177 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9998A>G (p.Asp3333Gly) rs769233119 0.00003
NM_206933.4(USH2A):c.10852G>A (p.Gly3618Ser) rs778158900 0.00002
NM_206933.4(USH2A):c.14011G>A (p.Glu4671Lys) rs769560933 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.3316+5G>C rs1442104013 0.00002
NM_206933.4(USH2A):c.6815C>T (p.Thr2272Met) rs776972526 0.00002
NM_206933.4(USH2A):c.7099G>A (p.Gly2367Arg) rs375744536 0.00002
NM_206933.4(USH2A):c.7525C>T (p.Arg2509Trp) rs1394948601 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.8041A>T (p.Met2681Leu) rs561700482 0.00002
NM_206933.4(USH2A):c.8861A>T (p.Gln2954Leu) rs1467856164 0.00002
NM_206933.4(USH2A):c.10373C>T (p.Thr3458Met) rs149485593 0.00001
NM_206933.4(USH2A):c.11530A>G (p.Ile3844Val) rs1267260016 0.00001
NM_206933.4(USH2A):c.12359G>A (p.Arg4120His) rs188008529 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12415G>C (p.Gly4139Arg) rs138866017 0.00001
NM_206933.4(USH2A):c.12432G>A (p.Ala4144=) rs773192157 0.00001
NM_206933.4(USH2A):c.12560G>A (p.Arg4187His) rs147304271 0.00001
NM_206933.4(USH2A):c.12581G>A (p.Cys4194Tyr) rs955434291 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.12954C>T (p.Tyr4318=) rs762159022 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13441A>G (p.Arg4481Gly) rs878853406 0.00001
NM_206933.4(USH2A):c.13577G>A (p.Arg4526Gln) rs527644737 0.00001
NM_206933.4(USH2A):c.13778C>T (p.Ser4593Leu) rs1202573136 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.1481A>G (p.Tyr494Cys) rs898430789 0.00001
NM_206933.4(USH2A):c.15092G>A (p.Arg5031Gln) rs755653202 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15169A>T (p.Ile5057Phe) rs542341955 0.00001
NM_206933.4(USH2A):c.15233C>G (p.Pro5078Arg) rs527236122 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2139C>T (p.Gly713=) rs765293412 0.00001
NM_206933.4(USH2A):c.2186G>A (p.Cys729Tyr) rs780709977 0.00001
NM_206933.4(USH2A):c.3068G>A (p.Cys1023Tyr) rs1391032458 0.00001
NM_206933.4(USH2A):c.4070C>T (p.Thr1357Met) rs201190539 0.00001
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile) rs758095361 0.00001
NM_206933.4(USH2A):c.4810G>A (p.Asp1604Asn) rs775241651 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.5953G>A (p.Glu1985Lys) rs150143291 0.00001
NM_206933.4(USH2A):c.6712G>A (p.Glu2238Lys) rs774634733 0.00001
NM_206933.4(USH2A):c.6715G>C (p.Asp2239His) rs749853149 0.00001
NM_206933.4(USH2A):c.6806-3C>T rs775703386 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.9109C>T (p.Arg3037Cys) rs770418427 0.00001
NM_206933.4(USH2A):c.9862G>C (p.Asp3288His) rs1334903455 0.00001
NM_206933.4(USH2A):c.9884G>T (p.Cys3295Phe) rs1662221668 0.00001
NM_206933.4(USH2A):c.9967T>G (p.Cys3323Gly) rs766658893 0.00001
NM_206933.4(USH2A):c.10024G>A (p.Gly3342Arg)
NM_206933.4(USH2A):c.10149C>G (p.Cys3383Trp)
NM_206933.4(USH2A):c.10157A>C (p.Lys3386Thr)
NM_206933.4(USH2A):c.10159A>G (p.Ile3387Val)
NM_206933.4(USH2A):c.1021C>T (p.Pro341Ser)
NM_206933.4(USH2A):c.10330T>G (p.Cys3444Gly) rs1661811625
NM_206933.4(USH2A):c.1038_1091dup (p.Thr363_Gln364insHisAspAsnAspValGlyThrSerTrpValSerAsnValPheThrAsnIleThr) rs2037708032
NM_206933.4(USH2A):c.10425G>T (p.Arg3475Ser)
NM_206933.4(USH2A):c.10473A>G (p.Arg3491=)
NM_206933.4(USH2A):c.10474G>T (p.Ala3492Ser) rs771610821
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.1048G>A (p.Val350Ile)
NM_206933.4(USH2A):c.10544A>G (p.Asp3515Gly) rs527236119
NM_206933.4(USH2A):c.10584T>G (p.Asn3528Lys)
NM_206933.4(USH2A):c.10627C>T (p.Arg3543Cys)
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10810G>T (p.Val3604Leu)
NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr) rs727504307
NM_206933.4(USH2A):c.10839T>C (p.Pro3613=)
NM_206933.4(USH2A):c.10976C>T (p.Thr3659Ile)
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11156G>T (p.Arg3719Leu) rs527236139
NM_206933.4(USH2A):c.11377T>C (p.Trp3793Arg) rs895291691
NM_206933.4(USH2A):c.11423A>G (p.Asn3808Ser)
NM_206933.4(USH2A):c.1150T>C (p.Tyr384His)
NM_206933.4(USH2A):c.11549-1G>A rs878853407
NM_206933.4(USH2A):c.11594C>A (p.Ala3865Glu) rs1064797132
NM_206933.4(USH2A):c.12022G>A (p.Asp4008Asn) rs866937010
NM_206933.4(USH2A):c.1204AAG[1] (p.Lys403del)
NM_206933.4(USH2A):c.12095G>T (p.Gly4032Val) rs878853409
NM_206933.4(USH2A):c.120G>A (p.Leu40=)
NM_206933.4(USH2A):c.12270T>C (p.Pro4090=)
NM_206933.4(USH2A):c.12299ACA[1] (p.Asn4101del) rs1657997491
NM_206933.4(USH2A):c.12305T>A (p.Ile4102Asn)
NM_206933.4(USH2A):c.12419G>T (p.Cys4140Phe) rs1064797131
NM_206933.4(USH2A):c.12463C>T (p.Pro4155Ser)
NM_206933.4(USH2A):c.12711A>G (p.Glu4237=) rs1657976025
NM_206933.4(USH2A):c.12730A>C (p.Asn4244His)
NM_206933.4(USH2A):c.12782C>T (p.Ala4261Val)
NM_206933.4(USH2A):c.12863C>A (p.Pro4288Gln)
NM_206933.4(USH2A):c.12897G>C (p.Arg4299Ser) rs143898511
NM_206933.4(USH2A):c.12932T>C (p.Phe4311Ser) rs1657960260
NM_206933.4(USH2A):c.13021T>G (p.Cys4341Gly)
NM_206933.4(USH2A):c.13071A>C (p.Ser4357=) rs568141672
NM_206933.4(USH2A):c.13175G>C (p.Arg4392Thr)
NM_206933.4(USH2A):c.131G>A (p.Gly44Glu) rs2039690182
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13385T>G (p.Ile4462Ser)
NM_206933.4(USH2A):c.13414G>A (p.Gly4472Ser) rs1657932443
NM_206933.4(USH2A):c.13492A>G (p.Thr4498Ala)
NM_206933.4(USH2A):c.13513T>C (p.Tyr4505His)
NM_206933.4(USH2A):c.13567G>T (p.Val4523Phe) rs746442849
NM_206933.4(USH2A):c.13590A>G (p.Ser4530=) rs1343900269
NM_206933.4(USH2A):c.13803A>T (p.Pro4601=) rs929186272
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.13854A>G (p.Ala4618=)
NM_206933.4(USH2A):c.1387_1419delinsACT (p.Tyr463_Asn472del) rs2037662587
NM_206933.4(USH2A):c.13887G>T (p.Glu4629Asp)
NM_206933.4(USH2A):c.13894C>G (p.Pro4632Ala)
NM_206933.4(USH2A):c.13907C>A (p.Pro4636His)
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.13916A>C (p.His4639Pro)
NM_206933.4(USH2A):c.14142A>T (p.Ala4714=)
NM_206933.4(USH2A):c.14239T>C (p.Ser4747Pro) rs1657035975
NM_206933.4(USH2A):c.14287G>A (p.Gly4763Arg) rs397517990
NM_206933.4(USH2A):c.14579A>G (p.His4860Arg)
NM_206933.4(USH2A):c.14663C>T (p.Thr4888Met)
NM_206933.4(USH2A):c.14702C>T (p.Pro4901Leu)
NM_206933.4(USH2A):c.14748C>T (p.Gly4916=) rs749572330
NM_206933.4(USH2A):c.14917G>A (p.Val4973Met)
NM_206933.4(USH2A):c.14934C>T (p.Asp4978=)
NM_206933.4(USH2A):c.14950C>G (p.Pro4984Ala)
NM_206933.4(USH2A):c.15013A>C (p.Lys5005Gln)
NM_206933.4(USH2A):c.1516TAT[1] (p.Tyr507del) rs1553250595
NM_206933.4(USH2A):c.151A>T (p.Ile51Phe) rs886043442
NM_206933.4(USH2A):c.15205A>G (p.Lys5069Glu)
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.15519+1dup
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1646G>A (p.Cys549Tyr)
NM_206933.4(USH2A):c.1654T>A (p.Cys552Ser)
NM_206933.4(USH2A):c.1729T>C (p.Cys577Arg) rs1553327470
NM_206933.4(USH2A):c.1840G>A (p.Gly614Arg) rs768436928
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2098G>A (p.Gly700Arg)
NM_206933.4(USH2A):c.263G>T (p.Cys88Phe) rs2039687321
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2844C>G (p.Cys948Trp) rs753787393
NM_206933.4(USH2A):c.2866A>G (p.Thr956Ala)
NM_206933.4(USH2A):c.2993+3A>T rs1201261740
NM_206933.4(USH2A):c.299T>A (p.Leu100His) rs1558082163
NM_206933.4(USH2A):c.3008A>G (p.Asn1003Ser) rs2035366945
NM_206933.4(USH2A):c.3149G>T (p.Cys1050Phe) rs1475306303
NM_206933.4(USH2A):c.3157+5G>A rs777673655
NM_206933.4(USH2A):c.3158-2A>G rs878853404
NM_206933.4(USH2A):c.3455T>C (p.Leu1152Ser) rs2034946086
NM_206933.4(USH2A):c.35T>G (p.Phe12Cys)
NM_206933.4(USH2A):c.3619A>G (p.Ile1207Val)
NM_206933.4(USH2A):c.3650A>G (p.Asp1217Gly)
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4102C>T (p.Pro1368Ser) rs755867377
NM_206933.4(USH2A):c.4231A>G (p.Ile1411Val)
NM_206933.4(USH2A):c.4241C>T (p.Ala1414Val)
NM_206933.4(USH2A):c.4251+1G>A rs878853405
NM_206933.4(USH2A):c.4580A>G (p.Tyr1527Cys)
NM_206933.4(USH2A):c.4627+3_4627+6del
NM_206933.4(USH2A):c.4670T>C (p.Ile1557Thr) rs2032460768
NM_206933.4(USH2A):c.4730G>T (p.Gly1577Val) rs2032458819
NM_206933.4(USH2A):c.4819T>C (p.Trp1607Arg) rs2032221850
NM_206933.4(USH2A):c.4919T>C (p.Ile1640Thr) rs2102563226
NM_206933.4(USH2A):c.4996C>G (p.Gln1666Glu)
NM_206933.4(USH2A):c.5002G>C (p.Gly1668Arg)
NM_206933.4(USH2A):c.5249A>G (p.Asn1750Ser)
NM_206933.4(USH2A):c.5447T>G (p.Val1816Gly) rs777011507
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5573G>A (p.Gly1858Asp)
NM_206933.4(USH2A):c.5629G>T (p.Ala1877Ser)
NM_206933.4(USH2A):c.5664G>A (p.Leu1888=) rs2102549080
NM_206933.4(USH2A):c.5775A>G (p.Thr1925=) rs747419030
NM_206933.4(USH2A):c.5776+1del
NM_206933.4(USH2A):c.5784G>A (p.Leu1928=)
NM_206933.4(USH2A):c.5819T>C (p.Val1940Ala) rs2031607129
NM_206933.4(USH2A):c.5837G>A (p.Arg1946Gln)
NM_206933.4(USH2A):c.5959T>A (p.Tyr1987Asn) rs747652397
NM_206933.4(USH2A):c.5990C>T (p.Thr1997Ile) rs2031510445
NM_206933.4(USH2A):c.6042C>A (p.Asn2014Lys)
NM_206933.4(USH2A):c.6104G>A (p.Cys2035Tyr) rs878853403
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6326-1G>A rs878853411
NM_206933.4(USH2A):c.6367T>G (p.Cys2123Gly) rs1668244820
NM_206933.4(USH2A):c.6446C>A (p.Pro2149Gln) rs869312182
NM_206933.4(USH2A):c.6584A>G (p.Asn2195Ser)
NM_206933.4(USH2A):c.6643C>G (p.Leu2215Val)
NM_206933.4(USH2A):c.6690G>C (p.Glu2230Asp)
NM_206933.4(USH2A):c.6806-2A>C
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser) rs759494205
NM_206933.4(USH2A):c.6905A>C (p.His2302Pro) rs1208209655
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7232A>C (p.Gln2411Pro)
NM_206933.4(USH2A):c.7340_7348del (p.Thr2447_Thr2449del) rs1665478442
NM_206933.4(USH2A):c.736A>G (p.Ile246Val) rs746975879
NM_206933.4(USH2A):c.7416G>C (p.Gln2472His)
NM_206933.4(USH2A):c.7499T>G (p.Leu2500Arg)
NM_206933.4(USH2A):c.7540_7548del (p.Asn2514_Phe2516del) rs766071177
NM_206933.4(USH2A):c.7572T>G (p.Ile2524Met)
NM_206933.4(USH2A):c.780A>G (p.Leu260=)
NM_206933.4(USH2A):c.7847C>A (p.Thr2616Asn)
NM_206933.4(USH2A):c.785-3C>G rs2037762626
NM_206933.4(USH2A):c.7870C>T (p.Pro2624Ser)
NM_206933.4(USH2A):c.7932G>C (p.Trp2644Cys)
NM_206933.4(USH2A):c.7949C>G (p.Pro2650Arg)
NM_206933.4(USH2A):c.7972A>G (p.Thr2658Ala)
NM_206933.4(USH2A):c.8075C>T (p.Pro2692Leu)
NM_206933.4(USH2A):c.8105T>G (p.Met2702Arg)
NM_206933.4(USH2A):c.8189C>A (p.Pro2730His) rs1665121843
NM_206933.4(USH2A):c.8276T>C (p.Ile2759Thr)
NM_206933.4(USH2A):c.8339T>A (p.Val2780Asp)
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.8682-16C>G rs958618933
NM_206933.4(USH2A):c.9110G>C (p.Arg3037Pro)
NM_206933.4(USH2A):c.9205C>T (p.Pro3069Ser)
NM_206933.4(USH2A):c.9265G>A (p.Val3089Ile)
NM_206933.4(USH2A):c.9413G>C (p.Gly3138Ala) rs756163056
NM_206933.4(USH2A):c.9668G>C (p.Cys3223Ser) rs1662773660
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) rs1246009294
NM_206933.4(USH2A):c.9944A>G (p.Tyr3315Cys) rs1662218841
NM_206933.4(USH2A):c.9958G>A (p.Gly3320Ser)

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