ClinVar Miner

List of variants reported as likely pathogenic for CADASIL

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000435.3(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr) rs1555730188
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) rs1554948318
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) rs1554950655
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) rs1554952277
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) rs1267457680

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.