ClinVar Miner

List of variants studied for X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001367916.1(MAGT1):c.14G>A (p.Trp5Ter) rs200934080
NM_001367916.1(MAGT1):c.313C>T (p.Arg105Ter) rs387906724
NM_001367916.1(MAGT1):c.459dup (p.Tyr154fs) rs1603361804
NM_001367916.1(MAGT1):c.502del (p.Arg168fs) rs1603361795
NM_001367916.1(MAGT1):c.616C>T (p.Arg206Ter) rs879989957
NM_001367916.1(MAGT1):c.826_826+9del rs1603361427
NM_001367916.1(MAGT1):c.842T>G (p.Leu281Ter) rs1569547878

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.