ClinVar Miner

List of variants studied for IMAGe syndrome by GeneReviews

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000076.2(CDKN1C):c.815T>G (p.Ile272Ser) rs515726203
NM_000076.2(CDKN1C):c.826T>G (p.Phe276Val) rs387907223
NM_000076.2(CDKN1C):c.827T>C (p.Phe276Ser) rs387907224
NM_000076.2(CDKN1C):c.832A>G (p.Lys278Glu) rs387907226
NM_000076.2(CDKN1C):c.836G>C (p.Arg279Pro) rs318240750
NM_000076.2(CDKN1C):c.836G>T (p.Arg279Leu) rs318240750
NM_000076.2(CDKN1C):c.842G>T (p.Arg281Ile) 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.