List of variants reported as pathogenic for autosomal recessive nonsyndromic hearing loss 84B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001378609.3(OTOGL):c.975del (p.Leu325fs)	rs766753922	0.00005
NM_001378609.3(OTOGL):c.1457del (p.Val486fs)	rs1233562246	0.00003
NM_001378609.3(OTOGL):c.2860C>T (p.Arg954Ter)	rs572666403	0.00003
NM_001378609.3(OTOGL):c.5449C>T (p.Arg1817Ter)	rs768620276	0.00003
NM_001378609.3(OTOGL):c.574C>T (p.Arg192Ter)	rs397514588	0.00003
NM_001378609.3(OTOGL):c.2391-2A>G	rs374272301	0.00001
NM_001378609.3(OTOGL):c.5265+5G>A	rs902734999	0.00001
NM_001378609.3(OTOGL):c.28A>G (p.Met10Val)	rs1277996676
NM_001378609.3(OTOGL):c.3081dup (p.Leu1028fs)	rs764178233
NM_001378609.3(OTOGL):c.6064G>T (p.Glu2022Ter)	rs2138034575
NM_001378609.3(OTOGL):c.6122-1G>A	rs952235302
NM_001378609.3(OTOGL):c.6162_6163del (p.Ala2055fs)
NM_001378609.3(OTOGL):c.6355C>T (p.Gln2119Ter)	rs1343148883
NM_001378609.3(OTOGL):c.6787C>T (p.Arg2263Ter)

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.