ClinVar Miner

List of variants reported as benign for autosomal recessive nonsyndromic hearing loss 8

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001256317.3(TMPRSS3):c.447-13A>G rs8130564 0.56900
NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=) rs2839501 0.49190
NM_001256317.3(TMPRSS3):c.*206A>G rs225309 0.35946
NM_001256317.3(TMPRSS3):c.*2G>A rs13047838 0.17560
NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val) rs2839500 0.16545
NM_001256317.3(TMPRSS3):c.331G>A (p.Gly111Ser) rs35227181 0.12359
NM_001256317.3(TMPRSS3):c.157G>A (p.Val53Ile) rs928302 0.08425
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr) rs45598239 0.03352
NM_001256317.3(TMPRSS3):c.-51-7G>C rs4920100 0.02415
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=) rs61731564 0.02161
NM_001256317.3(TMPRSS3):c.952+17A>G rs115489719 0.01047
NM_001256317.3(TMPRSS3):c.617-18C>T rs225431 0.00940
NM_001256317.3(TMPRSS3):c.933C>T (p.Ala311=) rs145235893 0.00153
NM_001256317.3(TMPRSS3):c.231C>T (p.Tyr77=) rs139934512 0.00125
NM_024022.2(TMPRSS3):c.617-3_617-2dup rs34966432

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.