ClinVar Miner

List of variants in gene USH2A reported by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_206933.3(USH2A):c.10388-1G>C rs1553261478
NM_206933.3(USH2A):c.11174del (p.Phe3725fs)
NM_206933.3(USH2A):c.13019G>T (p.Gly4340Val) rs1419157426
NM_206933.3(USH2A):c.2195G>T (p.Gly732Val)
NM_206933.3(USH2A):c.2279_2280del (p.Asn760fs) rs1553320542
NM_206933.3(USH2A):c.3435del (p.Val1147fs) rs397518012
NM_206933.3(USH2A):c.667dup (p.Ile223fs) rs1553253747
NM_206933.3(USH2A):c.8558+5G>A rs746331566
NM_206933.3(USH2A):c.9258+1G>A rs748810737
NM_206933.3(USH2A):c.9372-1G>A rs1558111861

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.