ClinVar Miner

List of variants in gene NOTCH2 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.4145C>A (p.Pro1382His) rs1418033447 0.00001
NC_000001.10:g.(120529706_120539619)_(120548212_120572528)dup
NM_024408.4(NOTCH2):c.1109-14C>T
NM_024408.4(NOTCH2):c.3011A>G (p.Asp1004Gly)
NM_024408.4(NOTCH2):c.4202A>G (p.Gln1401Arg) rs2101162597
NM_024408.4(NOTCH2):c.4273T>C (p.Cys1425Arg)
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
NM_024408.4(NOTCH2):c.6806G>T (p.Gly2269Val) rs1553193512
NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu)

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.