ClinVar Miner

List of variants in gene USH2A reported as likely benign by Dept Of Ophthalmology, Nagoya University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 53
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.11928G>A (p.Thr3976=) rs55961436 0.01005
NM_206933.4(USH2A):c.5993G>A (p.Arg1998His) rs143624066 0.00217
NM_206933.4(USH2A):c.13709G>A (p.Arg4570His) rs730254 0.00158
NM_206933.4(USH2A):c.6628C>G (p.Pro2210Ala) rs192115090 0.00086
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys) rs145771342 0.00050
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) rs138416665 0.00019
NM_206933.4(USH2A):c.12790G>A (p.Glu4264Lys) rs200792578 0.00014
NM_206933.4(USH2A):c.1581C>T (p.Cys527=) rs140331348 0.00014
NM_206933.4(USH2A):c.1608C>T (p.Cys536=) rs187380128 0.00014
NM_206933.4(USH2A):c.10312G>A (p.Ala3438Thr) rs146980351 0.00013
NM_206933.4(USH2A):c.9813G>A (p.Met3271Ile) rs137876918 0.00012
NM_206933.4(USH2A):c.1935A>T (p.Thr645=) rs146670690 0.00011
NM_206933.4(USH2A):c.9975G>A (p.Gly3325=) rs188093326 0.00011
NM_206933.4(USH2A):c.8760G>A (p.Thr2920=) rs200525258 0.00010
NM_206933.4(USH2A):c.11466C>T (p.Ser3822=) rs144655434 0.00008
NM_206933.4(USH2A):c.5577C>T (p.Phe1859=) rs764839361 0.00007
NM_206933.4(USH2A):c.6524G>A (p.Arg2175His) rs140845899 0.00007
NM_206933.4(USH2A):c.15355C>T (p.Arg5119Trp) rs767137840 0.00006
NM_206933.4(USH2A):c.4030A>G (p.Met1344Val) rs727503732 0.00006
NM_206933.4(USH2A):c.1346G>A (p.Arg449His) rs766715882 0.00005
NM_206933.4(USH2A):c.7839G>T (p.Glu2613Asp) rs568902534 0.00005
NM_206933.4(USH2A):c.10904C>A (p.Thr3635Asn) rs727505166 0.00004
NM_206933.4(USH2A):c.11134G>A (p.Val3712Ile) rs201951918 0.00004
NM_206933.4(USH2A):c.13939G>C (p.Gly4647Arg) rs144524302 0.00004
NM_206933.4(USH2A):c.14925C>T (p.Ser4975=) rs1158136623 0.00004
NM_206933.4(USH2A):c.723T>C (p.Thr241=) rs571744403 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_206933.4(USH2A):c.12918C>T (p.Leu4306=) rs192709780 0.00003
NM_206933.4(USH2A):c.1977A>G (p.Gly659=) rs774388489 0.00003
NM_206933.4(USH2A):c.7617G>A (p.Pro2539=) rs773159617 0.00003
NM_206933.4(USH2A):c.7965G>A (p.Glu2655=) rs571110005 0.00003
NM_206933.4(USH2A):c.11464T>C (p.Ser3822Pro) rs201961789 0.00002
NM_206933.4(USH2A):c.14190C>T (p.Thr4730=) rs199694401 0.00002
NM_206933.4(USH2A):c.14643C>T (p.Ser4881=) rs764036605 0.00002
NM_206933.4(USH2A):c.1572C>T (p.Ala524=) rs748943923 0.00002
NM_206933.4(USH2A):c.6729C>T (p.Gly2243=) rs369511538 0.00002
NM_206933.4(USH2A):c.13704C>T (p.Phe4568=) rs397517986 0.00001
NM_206933.4(USH2A):c.13833G>A (p.Ala4611=) rs760266483 0.00001
NM_206933.4(USH2A):c.14061C>A (p.Val4687=) rs753243273 0.00001
NM_206933.4(USH2A):c.1758C>T (p.Tyr586=) rs779929656 0.00001
NM_206933.4(USH2A):c.3933G>A (p.Ser1311=) rs560861284 0.00001
NM_206933.4(USH2A):c.7206G>A (p.Leu2402=) rs201731826 0.00001
NM_206933.4(USH2A):c.7230A>T (p.Val2410=) rs202162396 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.10532A>G (p.Asp3511Gly)
NM_206933.4(USH2A):c.11468T>C (p.Val3823Ala)
NM_206933.4(USH2A):c.11862G>C (p.Leu3954=) rs1486960561
NM_206933.4(USH2A):c.14518C>T (p.Leu4840=) rs1656939166
NM_206933.4(USH2A):c.14916C>T (p.Arg4972=)
NM_206933.4(USH2A):c.4062A>G (p.Ser1354=) rs1173545767
NM_206933.4(USH2A):c.5459T>C (p.Met1820Thr) rs201643378
NM_206933.4(USH2A):c.7428C>T (p.Gly2476=) rs150372183
NM_206933.4(USH2A):c.9770A>G (p.Asn3257Ser)

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.