ClinVar Miner

List of variants in gene TGFBR1 reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter) rs1057524497
NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter) rs1554700672

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.