ClinVar Miner

List of variants in gene CDKN1C reported as benign for IMAGe syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330 0.00013
NM_001122630.2(CDKN1C):c.*5+18dup rs34289096
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767

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.