ClinVar Miner

List of variants in gene TGM5 reported as pathogenic for acral peeling skin syndrome

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_201631.4(TGM5):c.122T>C (p.Leu41Pro) rs143601447
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276
NM_201631.4(TGM5):c.1811_1815delinsTCCTTCA (p.Ser604fs) rs606231278
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549
NM_201631.4(TGM5):c.640del (p.Leu214fs) rs606231277
NM_201631.4(TGM5):c.763T>C (p.Trp255Arg) rs115677373

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.