ClinVar Miner

List of variants in gene HTRA2 reported as likely benign for basal ganglia disorder

Included ClinVar conditions (83):
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_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_013247.5(HTRA2):c.354G>A (p.Leu118=) rs199735424 0.00121
NM_013247.5(HTRA2):c.627A>G (p.Arg209=) rs149169879 0.00078
NM_013247.5(HTRA2):c.510C>T (p.His170=) rs200747610 0.00053
NM_013247.5(HTRA2):c.1046-5C>G rs374529449 0.00016
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003

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.