List of variants reported as pathogenic for hyperlipoproteinemia by The Key Laboratory of Remodeling–Related Cardiovascular Diseases, Beijing Institute of Heart, Lung and Blood Vessel Diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.103del (p.Gln35fs)	rs2147210233
NM_000527.5(LDLR):c.1178A>C (p.Lys393Thr)	rs2147241974
NM_000527.5(LDLR):c.1470G>C (p.Trp490Cys)	rs879254915
NM_000527.5(LDLR):c.1550C>T (p.Ser517Phe)	rs749126200
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe)	rs1301458707
NM_000527.5(LDLR):c.1980G>C (p.Gln660His)	rs1382517876
NM_000527.5(LDLR):c.2487G>C (p.Gln829His)	rs2147287215
NM_000527.5(LDLR):c.378C>A (p.Phe126Leu)	rs762139262
NM_000527.5(LDLR):c.607del (p.His203fs)	rs2147224952
NM_000527.5(LDLR):c.618T>A (p.Ser206Arg)	rs879254595
NM_000527.5(LDLR):c.619G>T (p.Gly207Cys)	rs2147225060
NM_000527.5(LDLR):c.727T>A (p.Cys243Ser)	rs879254659
NM_000527.5(LDLR):c.764G>T (p.Cys255Phe)	rs879254669

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.