List of variants studied for Hypercholesterolemia, familial, 1 by Genetics and Molecular Pathology, SA Pathology

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)	rs72658865	0.00016
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)	rs879254851
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)	rs879254415
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr)	rs121908042
NM_000527.5(LDLR):c.373C>T (p.Gln125Ter)	rs875989899
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)	rs879254535
NM_000527.5(LDLR):c.621C>T (p.Gly207=)	rs121908044
NM_000527.5(LDLR):c.680_681del (p.Asp227fs)	rs387906305
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)	rs551747280
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)	rs875989910

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.