ClinVar Miner

List of variants in gene MYO5A reported as uncertain significance by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001382347.1(MYO5A):c.3136G>A (p.Val1046Met) rs56132571 0.00099
NM_001382347.1(MYO5A):c.852C>G (p.Asn284Lys) rs370600193 0.00029
NM_001382347.1(MYO5A):c.1476T>C (p.Asn492=) rs765320441 0.00010
NM_001382347.1(MYO5A):c.1094G>A (p.Gly365Asp) rs758345429 0.00003
NM_001382347.1(MYO5A):c.4977G>A (p.Thr1659=) rs527372564 0.00002
NM_001382347.1(MYO5A):c.5619C>T (p.Gly1873=) rs797045731

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.