ClinVar Miner

List of variants in gene USH2A reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508 0.00102
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00099
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.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_206933.4(USH2A):c.8600C>T (p.Ser2867Leu) rs145468090 0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00049
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.12883A>G (p.Ile4295Val) rs137868043 0.00045
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_206933.4(USH2A):c.15364T>C (p.Cys5122Arg) rs111033402 0.00029
NM_206933.4(USH2A):c.14069A>G (p.Tyr4690Cys) rs150280500 0.00026
NM_206933.4(USH2A):c.10490A>G (p.Asp3497Gly) rs146569216 0.00025
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_206933.4(USH2A):c.6233C>G (p.Pro2078Arg) rs150230450 0.00023
NM_206933.4(USH2A):c.10564A>G (p.Arg3522Gly) rs147374057 0.00022
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_206933.4(USH2A):c.11734G>A (p.Glu3912Lys) rs142617606 0.00016
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val) rs143523460 0.00012
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln) rs369806765 0.00011
NM_206933.4(USH2A):c.4646G>A (p.Arg1549Gln) rs190170807 0.00011
NM_206933.4(USH2A):c.12897G>T (p.Arg4299Ser) rs143898511 0.00010
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_206933.4(USH2A):c.14902G>A (p.Asp4968Asn) rs764124390 0.00009
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00009
NM_206933.4(USH2A):c.14101G>A (p.Glu4701Lys) rs372966682 0.00008
NM_206933.4(USH2A):c.1556A>G (p.Gln519Arg) rs199672621 0.00007
NM_206933.4(USH2A):c.3043C>T (p.His1015Tyr) rs142302070 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln) rs771999994 0.00006
NM_206933.4(USH2A):c.11366T>C (p.Ile3789Thr) rs183979371 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_206933.4(USH2A):c.12358C>T (p.Arg4120Cys) rs727503718 0.00006
NM_206933.4(USH2A):c.12667T>C (p.Phe4223Leu) rs150900847 0.00006
NM_206933.4(USH2A):c.14191G>A (p.Gly4731Arg) rs148674752 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_206933.4(USH2A):c.5783T>C (p.Leu1928Pro) rs111033399 0.00006
NM_206933.4(USH2A):c.5855C>T (p.Ala1952Val) rs773405046 0.00006
NM_206933.4(USH2A):c.586C>T (p.Pro196Ser) rs756041909 0.00006
NM_206933.4(USH2A):c.6724G>A (p.Glu2242Lys) rs375278546 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.9949C>T (p.Arg3317Cys) rs200696560 0.00006
NM_206933.4(USH2A):c.14419G>A (p.Ala4807Thr) rs534656527 0.00005
NM_206933.4(USH2A):c.1448C>T (p.Thr483Met) rs201847741 0.00005
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_206933.4(USH2A):c.1816G>C (p.Asp606His) rs111033410 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_206933.4(USH2A):c.10807G>A (p.Ala3603Thr) rs539580993 0.00004
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) rs185823130 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.15281C>T (p.Pro5094Leu) rs727503714 0.00004
NM_206933.4(USH2A):c.1601A>G (p.Tyr534Cys) rs570446209 0.00004
NM_206933.4(USH2A):c.1877G>A (p.Arg626Gln) rs192524347 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_206933.4(USH2A):c.6602A>T (p.Gln2201Leu) rs143107117 0.00004
NM_206933.4(USH2A):c.9240C>A (p.Phe3080Leu) rs397518044 0.00004
NM_206933.4(USH2A):c.9917G>A (p.Cys3306Tyr) rs758614136 0.00004
NM_206933.4(USH2A):c.10387+5C>G rs746536041 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.11414T>C (p.Val3805Ala) rs760024584 0.00003
NM_206933.4(USH2A):c.12874A>G (p.Asn4292Asp) rs397517984 0.00003
NM_206933.4(USH2A):c.13732A>G (p.Lys4578Glu) rs765354805 0.00003
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) rs376077079 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4169C>G (p.Thr1390Arg) rs370430107 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 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.938C>A (p.Pro313His) rs397518047 0.00003
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe) rs727504654 0.00003
NM_206933.4(USH2A):c.9989A>T (p.Asn3330Ile) rs397518050 0.00003
NM_206933.4(USH2A):c.13139C>T (p.Thr4380Ile) rs533179037 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.1582G>A (p.Asp528Asn) rs551424240 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_206933.4(USH2A):c.6883G>A (p.Gly2295Arg) rs768253909 0.00002
NM_206933.4(USH2A):c.9047G>A (p.Cys3016Tyr) rs759365458 0.00002
NM_206933.4(USH2A):c.9089T>C (p.Ile3030Thr) rs876658116 0.00002
NM_206933.4(USH2A):c.9415A>G (p.Ile3139Val) rs750899958 0.00002
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.10597T>C (p.Tyr3533His) rs1288596700 0.00001
NM_206933.4(USH2A):c.10933G>A (p.Val3645Ile) rs397517970 0.00001
NM_206933.4(USH2A):c.11263G>C (p.Gly3755Arg) rs397517971 0.00001
NM_206933.4(USH2A):c.1139A>G (p.Tyr380Cys) rs111033395 0.00001
NM_206933.4(USH2A):c.11596G>C (p.Ala3866Pro) rs1571639421 0.00001
NM_206933.4(USH2A):c.11740G>A (p.Val3914Ile) rs1401744202 0.00001
NM_206933.4(USH2A):c.11956A>G (p.Thr3986Ala) rs727505322 0.00001
NM_206933.4(USH2A):c.12362G>A (p.Arg4121His) rs397517980 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.12625G>A (p.Glu4209Lys) rs141943290 0.00001
NM_206933.4(USH2A):c.12633T>G (p.Ile4211Met) rs727503716 0.00001
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg) rs1255592098 0.00001
NM_206933.4(USH2A):c.13430A>G (p.Tyr4477Cys) rs921800139 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.14328T>G (p.His4776Gln) rs1220949681 0.00001
NM_206933.4(USH2A):c.14986A>T (p.Ile4996Phe) rs41308423 0.00001
NM_206933.4(USH2A):c.15038C>T (p.Thr5013Ile) rs397517996 0.00001
NM_206933.4(USH2A):c.15052+8A>G rs773109018 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1954A>G (p.Ser652Gly) rs397518005 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2167+4C>T rs200638562 0.00001
NM_206933.4(USH2A):c.3405G>C (p.Arg1135Ser) rs372843685 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.3493G>C (p.Val1165Leu) rs727503734 0.00001
NM_206933.4(USH2A):c.3649G>A (p.Asp1217Asn) rs202247801 0.00001
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) rs145459379 0.00001
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) rs776039417 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4436A>T (p.Asn1479Ile) rs961580455 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.4559T>A (p.Ile1520Asn) rs727503730 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.5752G>A (p.Glu1918Lys) rs529355834 0.00001
NM_206933.4(USH2A):c.6050G>A (p.Gly2017Asp) rs397518024 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6492A>C (p.Lys2164Asn) rs727503724 0.00001
NM_206933.4(USH2A):c.652-9T>G rs1231791432 0.00001
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) rs772407116 0.00001
NM_206933.4(USH2A):c.7039G>A (p.Val2347Met) rs727503721 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_206933.4(USH2A):c.7387G>A (p.Ala2463Thr) rs374569301 0.00001
NM_206933.4(USH2A):c.7436C>T (p.Thr2479Ile) rs876658115 0.00001
NM_206933.4(USH2A):c.7591G>A (p.Asp2531Asn) rs372989431 0.00001
NM_206933.4(USH2A):c.8120G>A (p.Gly2707Glu) rs397518034 0.00001
NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu) rs549796389 0.00001
NM_206933.4(USH2A):c.8200G>A (p.Val2734Met) rs397518035 0.00001
NM_206933.4(USH2A):c.8392G>A (p.Gly2798Arg) rs397518037 0.00001
NM_206933.4(USH2A):c.8851C>G (p.Gln2951Glu) rs201394390 0.00001
NM_206933.4(USH2A):c.9071T>A (p.Leu3024His) rs111033456 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) rs776395355 0.00001
NM_206933.4(USH2A):c.9956C>T (p.Pro3319Leu) rs761386458 0.00001
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) rs1378786390 0.00001
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn) rs1558099268 0.00001
GRCh37/hg19 1q41(chr1:215972794-216035558)
GRCh37/hg19 1q41(chr1:216003062-216084727)
NC_000001.10:g.(215916678_215931936)_(215940131_215953184)dup
NM_206933.4(USH2A):c.-1C>G rs547139318
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.10013C>T (p.Ser3338Leu) rs746870063
NM_206933.4(USH2A):c.10175T>A (p.Met3392Lys) rs757682417
NM_206933.4(USH2A):c.10415A>G (p.Tyr3472Cys) rs1553261469
NM_206933.4(USH2A):c.10585G>A (p.Gly3529Ser) rs111033439
NM_206933.4(USH2A):c.1064T>C (p.Val355Ala)
NM_206933.4(USH2A):c.10667G>A (p.Gly3556Glu) rs397517968
NM_206933.4(USH2A):c.10934T>A (p.Val3645Asp) rs1571678968
NM_206933.4(USH2A):c.11500T>A (p.Leu3834Met) rs1553257690
NM_206933.4(USH2A):c.11649A>G (p.Ile3883Met) rs397517975
NM_206933.4(USH2A):c.11687TCA[2] (p.Ile3898del) rs727504714
NM_206933.4(USH2A):c.11728G>C (p.Glu3910Gln) rs1436435041
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) rs1659890930
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) rs141528682
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg) rs908265742
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
NM_206933.4(USH2A):c.12116A>G (p.Tyr4039Cys) rs1658185167
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
NM_206933.4(USH2A):c.12560G>T (p.Arg4187Leu) rs147304271
NM_206933.4(USH2A):c.12877G>A (p.Gly4293Ser) rs727505117
NM_206933.4(USH2A):c.13022G>T (p.Cys4341Phe) rs397517985
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) rs2102665721
NM_206933.4(USH2A):c.13202G>T (p.Gly4401Val) rs763576540
NM_206933.4(USH2A):c.13238C>G (p.Pro4413Arg) rs1553252404
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.1346G>T (p.Arg449Leu) rs766715882
NM_206933.4(USH2A):c.13757A>G (p.His4586Arg) rs1657913699
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13811+3A>G rs760716728
NM_206933.4(USH2A):c.13882C>G (p.Pro4628Ala) rs1571945599
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
NM_206933.4(USH2A):c.14254G>A (p.Val4752Met) rs770161970
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
NM_206933.4(USH2A):c.1468C>T (p.His490Tyr)
NM_206933.4(USH2A):c.15002A>C (p.Glu5001Ala) rs1558033265
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.1522G>A (p.Ala508Thr) rs397517999
NM_206933.4(USH2A):c.15322C>T (p.Arg5108Trp) rs746098518
NM_206933.4(USH2A):c.15465dup (p.Val5156fs) rs769582796
NM_206933.4(USH2A):c.15526G>A (p.Asp5176Asn) rs774383785
NM_206933.4(USH2A):c.15581G>T (p.Arg5194Leu) rs727505155
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1648G>C (p.Asp550His) rs727504805
NM_206933.4(USH2A):c.1723T>A (p.Cys575Ser)
NM_206933.4(USH2A):c.1799G>C (p.Gly600Ala) rs772955674
NM_206933.4(USH2A):c.182C>A (p.Pro61Gln) rs938662688
NM_206933.4(USH2A):c.1934C>T (p.Thr645Ile) rs397518004
NM_206933.4(USH2A):c.1971+14A>C
NM_206933.4(USH2A):c.2228G>T (p.Gly743Val) rs727504638
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.2989G>A (p.Gly997Arg) rs397518009
NM_206933.4(USH2A):c.3170A>G (p.Gln1057Arg) rs111033377
NM_206933.4(USH2A):c.3241A>G (p.Asn1081Asp) rs1553315006
NM_206933.4(USH2A):c.3509C>T (p.Thr1170Ile) rs2034944380
NM_206933.4(USH2A):c.3584G>C (p.Cys1195Ser) rs727504652
NM_206933.4(USH2A):c.3812-3_3837dup rs780071028
NM_206933.4(USH2A):c.3895A>G (p.Ser1299Gly)
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.434T>A (p.Met145Lys) rs2102788303
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile) rs2034687815
NM_206933.4(USH2A):c.4558A>T (p.Ile1520Phe) rs770790346
NM_206933.4(USH2A):c.46G>A (p.Val16Ile)
NM_206933.4(USH2A):c.4744C>T (p.Leu1582Phe) rs866592573
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.506T>C (p.Val169Ala) rs2102784093
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.5254T>G (p.Leu1752Val) rs727503728
NM_206933.4(USH2A):c.5255T>G (p.Leu1752Trp) rs1469348824
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr)
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6805+6T>A rs746355792
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) rs1421761057
NM_206933.4(USH2A):c.6874C>T (p.Arg2292Cys) rs727503722
NM_206933.4(USH2A):c.7054C>T (p.Pro2352Ser)
NM_206933.4(USH2A):c.706C>A (p.Pro236Thr) rs762558966
NM_206933.4(USH2A):c.7234G>A (p.Val2412Met)
NM_206933.4(USH2A):c.7303C>A (p.Pro2435Thr) rs727503720
NM_206933.4(USH2A):c.7452G>T (p.Glu2484Asp) rs397518031
NM_206933.4(USH2A):c.7595-2140G>C rs1665201229
NM_206933.4(USH2A):c.7633A>G (p.Lys2545Glu) rs774559456
NM_206933.4(USH2A):c.7684G>T (p.Val2562Phe) rs397518033
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) rs1414367127
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.854T>C (p.Ile285Thr) rs397518038
NM_206933.4(USH2A):c.8845+6_8845+9del rs541344995
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
NM_206933.4(USH2A):c.9258+3T>C rs1553268427
NM_206933.4(USH2A):c.9814C>T (p.Pro3272Ser) rs1198810318

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