ClinVar Miner

List of variants in gene TTLL5 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_015072.5(TTLL5):c.1187-56G>T rs2288141 0.66272
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_015072.5(TTLL5):c.3800T>C (p.Phe1267Ser) rs1133834 0.30514
NM_015072.5(TTLL5):c.3498G>A (p.Leu1166=) rs3742764 0.13480
NM_015072.5(TTLL5):c.2016-74G>A rs17783198 0.10565
NM_015072.5(TTLL5):c.2136+6G>C rs45480992 0.10133
NM_015072.5(TTLL5):c.265-63T>C rs1477464 0.09139
NM_015072.5(TTLL5):c.934+45A>G rs17783174 0.04401
NM_015072.5(TTLL5):c.2388-12T>C rs72725608 0.02584
NM_015072.5(TTLL5):c.502+69T>G rs77074815 0.02384
NM_015072.5(TTLL5):c.1396-22T>C rs77593112 0.02130
NM_015072.5(TTLL5):c.265-47G>T rs147917101 0.00973
NM_015072.5(TTLL5):c.1124+68del rs5809726
NM_015072.5(TTLL5):c.2136+72del rs57636956
NM_015072.5(TTLL5):c.3522+73G>A rs867363324
NM_015072.5(TTLL5):c.3522+73_3522+74insAAAAAAAA rs869278134
NM_015072.5(TTLL5):c.3522+74_3522+75insA rs1298428665

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.