ClinVar Miner

List of variants reported as likely benign for Majeed syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696
NM_014646.2(LPIN2):c.2088-7T>G rs199713353
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905
NM_014646.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528
NM_014646.2(LPIN2):c.840A>G (p.Arg280=)

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.