ClinVar Miner

List of variants reported as pathogenic by Hereditary Hearing Loss Research Unit, University of Madras

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1619A>G (p.Asn540Ser) rs202190573 0.00010
NM_000091.5(COL4A3):c.387+1G>A rs1574674108
NM_000219.6(KCNE1):c.94dup (p.Arg32fs) rs1601044831
NM_000441.2(SLC26A4):c.1164dup (p.Gly389fs) rs1554358720
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs) rs2050261564
NM_001046.3(SLC12A2):c.2962C>T (p.Pro988Ser) rs1581138965
NM_001145026.2(PTPRQ):c.4006C>T (p.Gln1336Ter) rs1896318374
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del) rs1569167515
NM_016239.4(MYO15A):c.5673C>G (p.Tyr1891Ter) rs2046392476
NM_018076.5(ODAD2):c.2097+1G>A rs149368374

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.