ClinVar Miner

List of variants in gene USH2A reported as uncertain significance by Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.10808C>T (p.Ala3603Val) rs753430531 0.00002
NM_206933.4(USH2A):c.11714G>A (p.Arg3905His) rs201709470 0.00002
NM_206933.4(USH2A):c.4146G>C (p.Trp1382Cys) rs753908845 0.00002
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.9346C>A (p.Pro3116Thr) rs140260219 0.00001
NM_206933.4(USH2A):c.13123T>G (p.Cys4375Gly) rs1558048384
NM_206933.4(USH2A):c.5074G>T (p.Asp1692Tyr) rs1571948108
NM_206933.4(USH2A):c.5167+4A>G rs397518019
NM_206933.4(USH2A):c.6728G>T (p.Gly2243Val) rs201526850
NM_206933.4(USH2A):c.672C>A (p.Ser224Arg) rs1571744237
NM_206933.4(USH2A):c.9503G>T (p.Cys3168Phe) rs746007103

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.