ClinVar Miner

List of variants reported as uncertain significance for Majeed syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602
NM_014646.2(LPIN2):c.584C>T (p.Ala195Val) rs1226336598
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805

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.