ClinVar Miner

List of variants reported as benign for familial hyperlipidemia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_015627.3(LDLRAP1):c.654A>G (p.Thr218=) rs28969504 0.62316
NM_000078.3(CETP):c.1264G>A (p.Val422Ile) rs5882 0.58912
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000078.3(CETP):c.658+8C>T rs1532625 0.33778
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)

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.