ClinVar Miner

List of variants reported as uncertain significance for nonsyndromic genetic hearing loss by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (246):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_006383.4(CIB2):c.223G>A (p.Val75Met) rs758743502 0.00004
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793

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.