ClinVar Miner

List of variants in gene MAGEL2 reported as not provided for chromosomal disorder

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs) rs1890397401
NM_019066.5(MAGEL2):c.1996del (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_019066.5(MAGEL2):c.3110C>A (p.Ala1037Asp) rs776894525
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401

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.