ClinVar Miner

List of variants in gene NOTCH2 reported as likely benign for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_024408.4(NOTCH2):c.4122C>T (p.Cys1374=) rs74117504 0.00143
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024408.4(NOTCH2):c.4897G>A (p.Val1633Ile) rs116321057 0.00085
NM_024408.4(NOTCH2):c.1541A>G (p.Asn514Ser) rs34308573 0.00052
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275 0.00010
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_024408.4(NOTCH2):c.1443G>A (p.Leu481=) rs587674318 0.00006
NM_024408.4(NOTCH2):c.215G>A (p.Arg72His) rs201838650 0.00006
NM_024408.4(NOTCH2):c.3441G>A (p.Glu1147=) rs371875533 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) rs372504208
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.4999G>T (p.Val1667Phe) rs17024517
NM_024408.4(NOTCH2):c.6156T>C (p.Asp2052=)

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.