ClinVar Miner

List of variants reported as likely benign for autosomal dominant nonsyndromic hearing loss 48 by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005379.4(MYO1A):c.235G>T (p.Ala79Ser) rs147101055 0.00615
NM_005379.4(MYO1A):c.2021G>A (p.Gly674Asp) rs148808080 0.00050
NM_005379.4(MYO1A):c.640+1G>C rs199924915 0.00003
NM_005379.4(MYO1A):c.1011+2T>G rs875989945
NM_005379.4(MYO1A):c.1882C>G (p.Arg628Gly) rs151187460
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305

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.