ClinVar Miner

List of variants in gene USH2A reported as pathogenic by Ocular Genomics Institute, Massachusetts Eye and Ear

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_007123.5(USH2A):c.2299del (p.Glu767fs) rs80338903
NM_007123.5(USH2A):c.920_923dup (p.His308fs) rs397518043
NM_206933.3(USH2A):c.11389+3A>T rs753886165
NM_206933.3(USH2A):c.14792-2A>G rs137853923
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.3187_3188del (p.Gln1063fs) rs886039450
NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) rs398124619
NM_206933.3(USH2A):c.7524del (p.Arg2509fs) rs751176116
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter) rs111033364
NM_206933.4(USH2A):c.11875_11876del (p.Gln3959fs) rs779791079
NM_206933.4(USH2A):c.12067-2A>G rs397517978
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.1841-2A>G rs397518003
NM_206933.4(USH2A):c.1876C>T (p.Arg626Ter) rs534534437
NM_206933.4(USH2A):c.4338_4339del (p.Cys1447fs) rs111033367
NM_206933.4(USH2A):c.8981G>A (p.Trp2994Ter) rs397518041
NM_206933.4(USH2A):c.9371+1G>C rs41308425
NM_206933.4(USH2A):c.9570+1G>A rs760225886

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.