ClinVar Miner

List of variants in gene SLC17A8 reported as likely benign for autosomal dominant nonsyndromic hearing loss 25

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139319.3(SLC17A8):c.*480C>T rs118030087 0.00394
NM_139319.3(SLC17A8):c.*1090A>T rs540751555 0.00289
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=) rs11568546 0.00265
NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=) rs148882860 0.00261
NM_139319.3(SLC17A8):c.-246T>C rs60738448 0.00093
NM_139319.3(SLC17A8):c.*1243A>C rs146008884 0.00078
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser) rs138307707 0.00078
NM_139319.3(SLC17A8):c.*473T>C rs141694078 0.00023
NM_139319.3(SLC17A8):c.*1839A>G rs372482024 0.00009
NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val) rs141811441 0.00007

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.