ClinVar Miner

List of variants in gene C1GALT1C1 reported as pathogenic for Tn polyagglutination 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 gnomAD frequency
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572 0.15825
NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter) rs137853598
NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile) rs587776928
NM_001011551.3(C1GALT1C1):c.454G>A (p.Glu152Lys) rs137853599
NM_001011551.3(C1GALT1C1):c.540T>G (p.Tyr180Ter) rs778819609
NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro) rs397514537

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.