List of variants in gene NOTCH1 reported by Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)	rs61751489	0.01849
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	rs61751543	0.01655
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)	rs61751542	0.01473
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=)	rs11574889	0.00824
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)	rs201354526	0.00754
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)	rs114832250	0.00587
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)	rs35136134	0.00318
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	rs183156491	0.00171
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)	rs187473846	0.00071
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)	rs182330532	0.00058
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)	rs373713957	0.00035
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)	rs763621169	0.00006
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala)	rs201053795	0.00005
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)	rs201215245
NM_017617.5(NOTCH1):c.5387C>A (p.Pro1796His)	rs557319054
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg)	rs116317506

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.