ClinVar Miner

List of variants studied for CARASIL by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_002775.4(HTRA1):c.126delG rs587776448
NM_002775.4(HTRA1):c.961G>A rs587776449
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970

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.