ClinVar Miner

List of variants studied for familial lipoprotein lipase deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.292G>A (p.Ala98Thr) rs145657341 0.00006
NM_000237.3(LPL):c.662T>C (p.Ile221Thr) rs118204061 0.00004
NM_000237.3(LPL):c.1019-3C>A rs2128839190
NM_000237.3(LPL):c.1216A>T (p.Lys406Ter) rs2070033114
NM_000237.3(LPL):c.1250G>A (p.Trp417Ter) rs2128839600
NM_000237.3(LPL):c.628C>T (p.His210Tyr)
NM_000237.3(LPL):c.991A>G (p.Lys331Glu) rs2069982771

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.