List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1186+1G>T	rs730880131
NM_000527.5(LDLR):c.1688_1695del (p.Pro563fs)	rs2077460968
NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr)	rs758194385
NM_000527.5(LDLR):c.2022dup (p.Gly675fs)	rs2147265977
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
NM_000527.5(LDLR):c.382T>G (p.Cys128Gly)	rs879254505
NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)	rs755799528
NM_000527.5(LDLR):c.940+3_940+6del	rs2077315885

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.