ClinVar Miner

List of variants in gene NOTCH3 reported as likely pathogenic by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000435.3(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.3(NOTCH3):c.163T>C (p.Cys55Arg) rs1568363980
NM_000435.3(NOTCH3):c.2956T>G (p.Cys986Gly)
NM_000435.3(NOTCH3):c.351C>G (p.Cys117Trp)
NM_000435.3(NOTCH3):c.383G>T (p.Cys128Phe) rs1568362039
NM_000435.3(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.3(NOTCH3):c.953G>A (p.Cys318Tyr) rs1568361404

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.