ClinVar Miner

List of variants in gene B4GALT7 reported as uncertain significance for Ehlers-Danlos syndrome progeroid type

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007255.3(B4GALT7):c.374G>A (p.Arg125Gln)
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833
NM_007255.3(B4GALT7):c.662T>C (p.Phe221Ser) rs1468472910
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664
NM_007255.3(B4GALT7):c.814G>A (p.Ala272Thr) rs146632722

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.