List of variants in gene TMIE reported as pathogenic for auditory system disorder

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)	rs28942097	0.00002
NM_147196.3(TMIE):c.241C>T (p.Arg81Cys)	rs28942096	0.00001
NM_147196.3(TMIE):c.274C>T (p.Arg92Trp)	rs28941781	0.00001
NM_001370524.1(TMIE):c.-507_-66-2329del
NM_147196.3(TMIE):c.122_125del (p.Pro41fs)	rs876661301
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)	rs876661301
NM_147196.3(TMIE):c.144_145del (p.Val49fs)	rs1700545926
NM_147196.3(TMIE):c.170G>A (p.Trp57Ter)	rs267607120
NM_147196.3(TMIE):c.94-2_98delinsC	rs876657371

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.