ClinVar Miner

List of variants studied for Usher syndrome type 2A by Illumina Laboratory Services, Illumina

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Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_206933.4(USH2A):c.4627+1038T>C rs439940 0.20332
NM_206933.4(USH2A):c.4627+1142G>T rs401269 0.20255
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_206933.4(USH2A):c.4627+145T>G rs55761862 0.05087
NM_206933.4(USH2A):c.1931A>T (p.Asp644Val) rs1805048 0.04940
NM_206933.4(USH2A):c.4627+699C>A rs59704861 0.03223
NM_206933.4(USH2A):c.573A>G (p.Val191=) rs73102592 0.02039
NM_206933.4(USH2A):c.2109T>C (p.Asp703=) rs45555435 0.01476
NM_206933.4(USH2A):c.4371G>A (p.Ser1457=) rs56013136 0.01440
NM_206933.4(USH2A):c.1434G>C (p.Glu478Asp) rs35730265 0.01315
NM_206933.4(USH2A):c.4627+32G>T rs75662936 0.01284
NM_206933.4(USH2A):c.3945T>C (p.Asn1315=) rs41303257 0.01136
NM_206933.4(USH2A):c.4440C>T (p.Ser1480=) rs111632670 0.00984
NM_206933.4(USH2A):c.848+5G>C rs74329863 0.00641
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_206933.4(USH2A):c.78T>C (p.Ala26=) rs59139861 0.00539
NM_206933.4(USH2A):c.4627+641G>A rs146153666 0.00523
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_206933.4(USH2A):c.486-13G>A rs116367260 0.00385
NM_206933.4(USH2A):c.2510G>A (p.Arg837Gln) rs148594393 0.00272
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser) rs111033479 0.00240
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp) rs34596189 0.00216
NM_206933.4(USH2A):c.879T>G (p.Leu293=) rs3767698 0.00201
NM_206933.4(USH2A):c.3621C>T (p.Ile1207=) rs146462407 0.00190
NM_206933.4(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255 0.00190
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_206933.4(USH2A):c.4627+562C>T rs769348449 0.00169
NM_206933.4(USH2A):c.3648C>T (p.Tyr1216=) rs147947402 0.00167
NM_206933.4(USH2A):c.4627+1133G>A rs138139294 0.00167
NM_206933.4(USH2A):c.4627+281T>C rs570544314 0.00163
NM_206933.4(USH2A):c.3364T>G (p.Ser1122Ala) rs148135241 0.00152
NM_206933.4(USH2A):c.486-15C>T rs114194722 0.00146
NM_206933.4(USH2A):c.4627+981T>A rs41277220 0.00135
NM_206933.4(USH2A):c.1179A>G (p.Gln393=) rs148447919 0.00118
NM_206933.4(USH2A):c.2256T>C (p.His752=) rs111033281 0.00103
NM_206933.4(USH2A):c.3157+12C>T rs199853422 0.00088
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_206933.4(USH2A):c.2001C>T (p.His667=) rs142870255 0.00073
NM_206933.4(USH2A):c.1966G>A (p.Asp656Asn) rs146824138 0.00071
NM_206933.4(USH2A):c.4627+801C>G rs41277222 0.00064
NM_206933.4(USH2A):c.485+12T>C rs201857884 0.00058
NM_206933.4(USH2A):c.4627+411A>G rs772732997 0.00056
NM_206933.4(USH2A):c.2299del (p.Glu767fs) rs80338903 0.00055
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248 0.00048
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_206933.4(USH2A):c.4627+561T>C rs566131886 0.00035
NM_206933.4(USH2A):c.2167+11C>T rs139647897 0.00029
NM_206933.4(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677 0.00029
NM_206933.4(USH2A):c.1439T>C (p.Val480Ala) rs200981928 0.00025
NM_206933.4(USH2A):c.1539C>T (p.Thr513=) rs199939890 0.00019
NM_206933.4(USH2A):c.4627+161T>C rs771693146 0.00017
NM_206933.4(USH2A):c.4627+596A>G rs1036513961 0.00016
NM_206933.4(USH2A):c.4627+851A>G rs779885066 0.00016
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.1898C>T (p.Ser633Leu) rs373190681 0.00014
NM_206933.4(USH2A):c.1903A>G (p.Ile635Val) rs201808654 0.00013
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.2633G>A (p.Arg878His) rs200124505 0.00011
NM_206933.4(USH2A):c.3139C>G (p.Leu1047Val) rs727503735 0.00010
NM_206933.4(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812 0.00010
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala) rs587783023 0.00009
NM_206933.4(USH2A):c.3177G>A (p.Pro1059=) rs767648070 0.00009
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_206933.4(USH2A):c.3801G>A (p.Ala1267=) rs537863698 0.00008
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.1438G>A (p.Val480Ile) rs138694314 0.00006
NM_206933.4(USH2A):c.184G>A (p.Asp62Asn) rs567937233 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.4627+510G>A rs941646674 0.00006
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.1731C>T (p.Cys577=) rs41313732 0.00005
NM_206933.4(USH2A):c.3700A>G (p.Ile1234Val) rs200276882 0.00005
NM_206933.4(USH2A):c.4627+10T>C rs148657311 0.00005
NM_206933.4(USH2A):c.4627+610G>A rs886045947 0.00005
NM_206933.4(USH2A):c.-305C>G rs1430551833 0.00004
NM_206933.4(USH2A):c.-355C>G rs868097748 0.00004
NM_206933.4(USH2A):c.126C>T (p.Asn42=) rs774473277 0.00004
NM_206933.4(USH2A):c.1530C>T (p.Asp510=) rs200940197 0.00004
NM_206933.4(USH2A):c.1704C>T (p.Tyr568=) rs766038321 0.00004
NM_206933.4(USH2A):c.3780T>C (p.His1260=) rs759937489 0.00004
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_206933.4(USH2A):c.3584G>T (p.Cys1195Phe) rs727504652 0.00003
NM_206933.4(USH2A):c.4627+686T>A rs977631162 0.00003
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.3342C>T (p.Asp1114=) rs755765979 0.00002
NM_206933.4(USH2A):c.4627+850C>T rs906951959 0.00002
NM_206933.4(USH2A):c.-204-15G>A rs1162064882 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.1900G>T (p.Ala634Ser) rs759589036 0.00001
NM_206933.4(USH2A):c.1972-4C>T rs772294505 0.00001
NM_206933.4(USH2A):c.2031G>T (p.Gln677His) rs753305011 0.00001
NM_206933.4(USH2A):c.2279A>G (p.Asn760Ser) rs776095235 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.3969G>A (p.Met1323Ile) rs886045953 0.00001
NM_206933.4(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950 0.00001
NM_206933.4(USH2A):c.4370C>T (p.Ser1457Leu) rs2034688425 0.00001
NM_206933.4(USH2A):c.-159G>C rs886045955
NM_206933.4(USH2A):c.-181C>T rs866904288
NM_206933.4(USH2A):c.-289C>A rs886045956
NM_206933.4(USH2A):c.-289C>T rs886045956
NM_206933.4(USH2A):c.1069A>G (p.Asn357Asp) rs144560419
NM_206933.4(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_206933.4(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_206933.4(USH2A):c.1379G>A (p.Gly460Glu) rs2037663922
NM_206933.4(USH2A):c.14173T>C (p.Trp4725Arg)
NM_206933.4(USH2A):c.2836A>G (p.Thr946Ala) rs754932972
NM_206933.4(USH2A):c.3660A>G (p.Val1220=) rs2034940102
NM_206933.4(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.4(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.4(USH2A):c.3884G>T (p.Arg1295Leu) rs372993160
NM_206933.4(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_206933.4(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_206933.4(USH2A):c.4385C>G (p.Thr1462Ser) rs2034687815
NM_206933.4(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_206933.4(USH2A):c.4627+1091T>C rs886045945
NM_206933.4(USH2A):c.4627+28A>G rs773190850
NM_206933.4(USH2A):c.4627+330A>G rs886045949
NM_206933.4(USH2A):c.4627+343A>G rs2034344204
NM_206933.4(USH2A):c.4627+36C>T rs577393945
NM_206933.4(USH2A):c.4627+442C>G rs1037400670
NM_206933.4(USH2A):c.4627+48A>T rs74874838
NM_206933.4(USH2A):c.4627+512G>A rs2034341678
NM_206933.4(USH2A):c.4627+589C>A rs886045948
NM_206933.4(USH2A):c.4627+813C>T rs192047831
NM_206933.4(USH2A):c.4627+974T>C rs2034329165
NM_206933.4(USH2A):c.486-1G>C rs876657730
NM_206933.4(USH2A):c.651+15A>G rs765252898
NM_206933.4(USH2A):c.849-4A>G rs765189933
NM_206933.4(USH2A):c.9155A>G (p.Glu3052Gly)
NM_206933.4(USH2A):c.950G>A (p.Arg317Gln) rs760741238

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