ClinVar Miner

List of variants in gene LAMP2 reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672 0.00015
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002294.3(LAMP2):c.1093+2589C>T rs377303143 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.*2773A>C rs397516587 0.00001
NM_002294.3(LAMP2):c.657A>G (p.Glu219=) rs876657484 0.00001
NM_002294.3(LAMP2):c.813A>G (p.Leu271=) rs876657485 0.00001
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.398-7T>C rs876657483
NM_002294.3(LAMP2):c.672A>G (p.Ser224=) rs397516746
NM_002294.3(LAMP2):c.855C>T (p.Val285=) rs397516750

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.