ClinVar Miner

Variants in gene LPL with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.804C>A (p.His268Gln)
NM_000237.3(LPL):c.862G>A (p.Ala288Thr)
NM_000237.3(LPL):c.995C>T (p.Thr332Ile) rs2128838568

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.