ClinVar Miner

List of variants in gene USH2A studied for Retinitis Pigmentosa, Recessive

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
Download table as spreadsheet
HGVS dbSNP
NM_007123.5(USH2A):c.3317-14delT rs376363548
NM_007123.5(USH2A):c.4252-16_4252-13dupCTTT rs372388546
NM_206933.3(USH2A):c.-159G>C rs886045955
NM_206933.3(USH2A):c.-181C>T rs866904288
NM_206933.3(USH2A):c.-229C>T rs151238022
NM_206933.3(USH2A):c.-289C>A rs886045956
NM_206933.3(USH2A):c.-289C>T rs886045956
NM_206933.3(USH2A):c.-355C>G rs868097748
NM_206933.3(USH2A):c.1179A>G (p.Gln393=) rs148447919
NM_206933.3(USH2A):c.126C>T (p.Asn42=) rs774473277
NM_206933.3(USH2A):c.1327A>G (p.Asn443Asp) rs775075026
NM_206933.3(USH2A):c.1363A>G (p.Ser455Gly) rs866877329
NM_206933.3(USH2A):c.1419C>T (p.Thr473=) rs1805050
NM_206933.3(USH2A):c.1530C>T (p.Asp510=) rs200940197
NM_206933.3(USH2A):c.1539C>T (p.Thr513=) rs199939890
NM_206933.3(USH2A):c.1731C>T (p.Cys577=) rs41313732
NM_206933.3(USH2A):c.1789C>A (p.His597Asn) rs201127450
NM_206933.3(USH2A):c.1900G>T (p.Ala634Ser) rs759589036
NM_206933.3(USH2A):c.1903A>G (p.Ile635Val) rs201808654
NM_206933.3(USH2A):c.2001C>T (p.His667=) rs142870255
NM_206933.3(USH2A):c.2137G>C (p.Gly713Arg) rs696723
NM_206933.3(USH2A):c.2279A>G (p.Asn760Ser) rs776095235
NM_206933.3(USH2A):c.2459A>G (p.Asn820Ser) rs34447581
NM_206933.3(USH2A):c.3045C>G (p.His1015Gln) rs541918040
NM_206933.3(USH2A):c.3157+12C>T rs199853422
NM_206933.3(USH2A):c.3177G>A (p.Pro1059=) rs767648070
NM_206933.3(USH2A):c.3320T>G (p.Ile1107Ser) rs146372677
NM_206933.3(USH2A):c.3342C>T (p.Asp1114=) rs755765979
NM_206933.3(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834
NM_206933.3(USH2A):c.3621C>T (p.Ile1207=) rs146462407
NM_206933.3(USH2A):c.3648C>T (p.Tyr1216=) rs147947402
NM_206933.3(USH2A):c.3700A>G (p.Ile1234Val) rs200276882
NM_206933.3(USH2A):c.3725C>T (p.Pro1242Leu) rs886045954
NM_206933.3(USH2A):c.373G>A (p.Ala125Thr) rs10779261
NM_206933.3(USH2A):c.3801G>A (p.Ala1267=) rs537863698
NM_206933.3(USH2A):c.3812-8T>G rs646094
NM_206933.3(USH2A):c.3884G>A (p.Arg1295Gln) rs372993160
NM_206933.3(USH2A):c.3969G>A (p.Met1323Ile) rs886045953
NM_206933.3(USH2A):c.4252-36CTTT[5] rs372388546
NM_206933.3(USH2A):c.4276G>A (p.Glu1426Lys) rs886045952
NM_206933.3(USH2A):c.4349T>C (p.Val1450Ala) rs886045951
NM_206933.3(USH2A):c.4366G>A (p.Ala1456Thr) rs886045950
NM_206933.3(USH2A):c.4412G>C (p.Arg1471Thr) rs369357349
NM_206933.3(USH2A):c.4440C>T (p.Ser1480=) rs111632670
NM_206933.3(USH2A):c.4445C>T (p.Thr1482Ile) rs200790812
NM_206933.3(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_206933.3(USH2A):c.4627+1038T>C rs439940
NM_206933.3(USH2A):c.4627+1091T>C rs886045945
NM_206933.3(USH2A):c.4627+1142G>T rs401269
NM_206933.3(USH2A):c.4627+1205_4627+1208del rs751661540
NM_206933.3(USH2A):c.4627+145T>G rs55761862
NM_206933.3(USH2A):c.4627+161T>C rs771693146
NM_206933.3(USH2A):c.4627+281T>C rs570544314
NM_206933.3(USH2A):c.4627+330A>G rs886045949
NM_206933.3(USH2A):c.4627+411A>G rs772732997
NM_206933.3(USH2A):c.4627+561T>C rs566131886
NM_206933.3(USH2A):c.4627+562C>T rs769348449
NM_206933.3(USH2A):c.4627+589C>A rs886045948
NM_206933.3(USH2A):c.4627+610G>A rs886045947
NM_206933.3(USH2A):c.4627+699C>A rs59704861
NM_206933.3(USH2A):c.4627+801C>G rs41277222
NM_206933.3(USH2A):c.4627+813C>T rs192047831
NM_206933.3(USH2A):c.4627+851A>G rs779885066
NM_206933.3(USH2A):c.4627+945AT[3] rs886045946
NM_206933.3(USH2A):c.485+12T>C rs201857884
NM_206933.3(USH2A):c.486-15C>T rs114194722
NM_206933.3(USH2A):c.504A>G (p.Thr168=) rs4253963
NM_206933.3(USH2A):c.651+15A>G rs765252898
NM_206933.3(USH2A):c.849-4A>G rs765189933
NM_206933.3(USH2A):c.950G>A (p.Arg317Gln) rs760741238

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.