List of variants studied for nonsyndromic genetic hearing loss by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004086.3(COCH):c.1055C>G (p.Thr352Ser)	rs1045644	0.51720
NM_000601.6(HGF):c.1008G>A (p.Glu336=)	rs148714837	0.00202
NM_001039141.3(TRIOBP):c.1478G>A (p.Ser493Asn)	rs4821700
NM_001378609.3(OTOGL):c.6122-1G>A	rs952235302
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del)	rs3075570

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.