ClinVar Miner

List of variants reported as likely pathogenic by Centre de recherche St Antoine, Sorbonne Université, INSERM,Sorbonne University

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
NM_000875.5(IGF1R):c.118C>T (p.Arg40Cys) rs1596214066
NM_000875.5(IGF1R):c.3162G>A (p.Met1054Ile) rs1596468719
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) rs1596476159
NM_000875.5(IGF1R):c.3539C>A (p.Ser1180Tyr) rs1596476163
NM_000875.5(IGF1R):c.995G>A (p.Cys332Tyr) rs1596409872

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.