ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.3(USH2A):c.12122T>C (p.Ile4041Thr) rs1558051246
NM_206933.3(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.3(USH2A):c.12273G>A (p.Met4091Ile) rs751834009
NM_206933.3(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.13364C>T (p.Thr4455Ile) rs373152283
NM_206933.3(USH2A):c.15581G>T (p.Arg5194Leu) rs727505155
NM_206933.3(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287
NM_206933.3(USH2A):c.6431A>C (p.Glu2144Ala) rs754703964
NM_206933.3(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.3(USH2A):c.8778G>T (p.Glu2926Asp) rs374146074
NM_206933.3(USH2A):c.9415A>G (p.Ile3139Val) rs750899958

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.