ClinVar Miner

List of variants reported as uncertain significance 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: 6
Download table as spreadsheet
HGVS dbSNP
NM_001829.4(CLCN3):c.2302A>G (p.Met768Val) rs770732784
NM_002043.5(GABRR2):c.1003G>A (p.Val335Met) rs756735401
NM_006150.5(PRICKLE3):c.609C>A (p.Ser203Arg) rs1057519388
NM_016483.7(PHF7):c.583C>T (p.His195Tyr) rs753391887
NM_024915.4(GRHL2):c.34G>T (p.Val12Leu) rs749906501
NM_181453.4(GCC2):c.1070A>G (p.Tyr357Cys) rs1057519387

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.