ClinVar Miner

List of variants studied for hereditary spastic paraplegia 49 by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile) rs1309353 0.93726
NM_014844.5(TECPR2):c.2934-236A>G rs1190552 0.74118
NM_014844.5(TECPR2):c.*60A>G rs2403058 0.71373
NM_014844.5(TECPR2):c.951+18A>G rs4906197 0.35713
NM_014844.5(TECPR2):c.348+83A>G rs60215817 0.25911
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_014844.5(TECPR2):c.2934-230T>C rs2273907 0.21592
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=) rs45605932 0.12774
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=) rs17100923 0.10438
NM_014844.5(TECPR2):c.1418-165G>A rs67088231 0.08306
NM_014844.5(TECPR2):c.-2C>T rs17100874 0.02432

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.