ClinVar Miner

List of variants reported as likely benign for IMAGe syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00188
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361 0.00025
NM_001122630.2(CDKN1C):c.551T>C (p.Val184Ala) rs1261515352 0.00022
NM_001122630.2(CDKN1C):c.319C>G (p.Pro107Ala) rs772684721 0.00021
NM_001122630.2(CDKN1C):c.417A>T (p.Pro139=) rs1486402339 0.00010
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00008
NM_001122630.2(CDKN1C):c.719C>T (p.Ala240Val) rs765542916 0.00005
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) rs762337324 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001122630.2(CDKN1C):c.507G>A (p.Pro169=) rs1419249357 0.00002
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=) rs1216953646 0.00002
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940

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.