ClinVar Miner

List of variants reported as not provided for IMAGe syndrome by GeneReviews

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.782T>G (p.Ile261Ser) rs515726203
NM_001122630.2(CDKN1C):c.793T>G (p.Phe265Val) rs387907223
NM_001122630.2(CDKN1C):c.794T>C (p.Phe265Ser) rs387907224
NM_001122630.2(CDKN1C):c.799A>G (p.Lys267Glu) rs387907226
NM_001122630.2(CDKN1C):c.802C>A (p.Arg268Ser) rs1848883206
NM_001122630.2(CDKN1C):c.803G>C (p.Arg268Pro) rs318240750
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809G>T (p.Arg270Ile) rs886037912

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.