ClinVar Miner

List of variants in gene TTLL1 reported by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012263.5(TTLL1):c.1242G>A (p.Ser414=) rs1052163 0.29903
NM_012263.5(TTLL1):c.849C>T (p.Asp283=) rs5759125 0.22633
NM_012263.5(TTLL1):c.720C>T (p.Leu240=) rs1052160 0.22295
NM_012263.5(TTLL1):c.750G>A (p.Glu250=) rs1132079 0.22279
NM_012263.5(TTLL1):c.894G>A (p.Pro298=) rs9607998 0.03327

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.