ClinVar Miner

List of variants reported as pathogenic for Progressive sensorineural hearing impairment by Otology & Neurotology- Genomics of vestibular disorders (CTS-495),Jose Antonio López Escámez, Centro Pfizer - Universidad de Granada - Junta de Andalucía de Genómica e Investigación Oncológica (GENYO)

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
NM_001937.5(DPT):c.544C>T (p.Arg182Cys) rs748718975
NM_002738.7(PRKCB):c.275G>T (p.Gly92Val) rs1131692056
NM_152754.2(SEMA3D):c.1738C>T (p.Pro580Ser) rs1057519374

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.