ClinVar Miner

List of variants studied for Usher syndrome by Human Genetics - Radboudumc,Radboudumc

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP
NM_001195794.1(CLRN1):c.118T>G (p.Cys40Gly) rs121908143
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) rs1560449207
NM_006017.3(PROM1):c.1983+5G>T rs1560421595
NM_022124.6(CDH23):c.1515-12G>A rs369396703
NM_022124.6(CDH23):c.3428dup (p.His1143fs) rs1253419936
NM_022124.6(CDH23):c.6285dup (p.Glu2096Ter) rs1564796487
NM_032119.4(ADGRV1):c.4108T>G (p.Phe1370Val) rs1561464218
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter) rs121908140
NM_206933.2(USH2A):c.(784+1_785-1)_(5572+1_5573-1)dup
NM_206933.2(USH2A):c.[2299del;4714C>T]
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.1808G>A (p.Gly603Glu) rs1427232199
NM_206933.3(USH2A):c.6722C>T (p.Pro2241Leu) rs1057518826
NM_206933.3(USH2A):c.7501C>T (p.Gln2501Ter) rs1558151555
NM_206933.4(USH2A):c.1256G>T (p.Cys419Phe) rs121912600

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.