ClinVar Miner

List of variants reported as benign for hyperlipoproteinemia by ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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.