List of variants in gene NOTCH1 reported as other by Department of Human Genetics, Nagasaki University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)	rs754529382	0.00001
NM_017617.5(NOTCH1):c.1412T>C (p.Ile471Thr)	rs753964476
NM_017617.5(NOTCH1):c.2969+1G>T	rs2540445553
NM_017617.5(NOTCH1):c.3304G>T (p.Glu1102Ter)	rs2133347115
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr)	rs1388726872
NM_017617.5(NOTCH1):c.4513T>C (p.Cys1505Arg)	rs1843064220

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.