ClinVar Miner

List of variants in gene NOTCH3 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP
NM_000435.2(NOTCH3):c.1235A>G (p.Gln412Arg) rs1131691934
NM_000435.2(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.2(NOTCH3):c.128G>A (p.Cys43Tyr) rs1555730204
NM_000435.2(NOTCH3):c.1450T>G (p.Cys484Gly) rs1555728965
NM_000435.2(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.2(NOTCH3):c.163T>C (p.Cys55Arg)
NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.2(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.2(NOTCH3):c.2956T>G (p.Cys986Gly)
NM_000435.2(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.2(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.2(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.2(NOTCH3):c.351C>G (p.Cys117Trp)
NM_000435.2(NOTCH3):c.376A>T (p.Ser126Cys) rs1555729534
NM_000435.2(NOTCH3):c.383G>T (p.Cys128Phe)
NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.2(NOTCH3):c.437G>T (p.Cys146Phe) rs1236699193
NM_000435.2(NOTCH3):c.5926dupC (p.Leu1976Profs) rs1555725170
NM_000435.2(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.2(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.2(NOTCH3):c.6692delC (p.Pro2231Glnfs) rs773656789
NM_000435.2(NOTCH3):c.932G>T (p.Cys311Phe) rs1555729346
NM_000435.2(NOTCH3):c.953G>A (p.Cys318Tyr)

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.