ClinVar Miner

List of variants in gene HTRA2, LOXL3 studied for Parkinson disease 13, autosomal dominant, susceptibility to

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013247.5(HTRA2):c.*94C>T rs79220020 0.03093
NM_013247.4(HTRA2):c.*384C>A rs71640295 0.02253
NM_013247.4(HTRA2):c.*531A>G rs114661282 0.01397
NM_013247.5(HTRA2):c.1195G>A (p.Gly399Ser) rs72470545 0.00231
NM_013247.5(HTRA2):c.1155C>T (p.Pro385=) rs150357486 0.00046
NM_013247.4(HTRA2):c.*443T>A rs71640296 0.00039
NM_013247.5(HTRA2):c.*267C>T rs184230827 0.00027
NM_013247.5(HTRA2):c.1131A>G (p.Leu377=) rs758108369 0.00008
NM_013247.4(HTRA2):c.*513T>A rs886056348 0.00003
NM_013247.5(HTRA2):c.*265C>T rs1016550488 0.00002
NM_013247.5(HTRA2):c.*249G>C rs775428682 0.00001
NM_013247.5(HTRA2):c.*291G>A rs886056347 0.00001
NM_013247.5(HTRA2):c.1294C>T (p.Arg432Ter) rs746665790 0.00001
NM_013247.4(HTRA2):c.*537G>A rs886056349
NM_013247.5(HTRA2):c.1346C>T (p.Thr449Ile) rs886056346

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.