ClinVar Miner

List of variants in gene TGM1 reported by Uitto Lab, Thomas Jefferson University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys) rs543521135 0.00001
NM_000359.3(TGM1):c.1420C>T (p.Pro474Ser) rs1202280089 0.00001
NM_000359.3(TGM1):c.1298+1G>A rs1566378425
NM_000359.3(TGM1):c.1307A>G (p.His436Arg) rs1381998109
NM_000359.3(TGM1):c.131G>A (p.Trp44Ter) rs1566381457
NM_000359.3(TGM1):c.1491G>A (p.Glu497=) rs1199404507
NM_000359.3(TGM1):c.1521del (p.Gln508fs) rs1566377068
NM_000359.3(TGM1):c.1862A>G (p.Tyr621Cys) rs1566376648
NM_000359.3(TGM1):c.1928-1G>A rs112419023
NM_000359.3(TGM1):c.398_407dup (p.Tyr136Ter) rs1057517836
NM_000359.3(TGM1):c.400T>C (p.Tyr134His) rs1230140208
NM_000359.3(TGM1):c.856C>T (p.Arg286Trp) rs773777400
NM_000359.3(TGM1):c.862T>C (p.Trp288Arg) rs1247223599

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.