ClinVar Miner

List of variants reported as uncertain significance by Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_174936.3(PCSK9):c.-331C>A rs778796405 0.00026
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.4(LDLR):c.-206C>T rs549995837
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1776_1778del (p.Gly593del) rs875989931
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.2149G>A (p.Ala717Thr)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) rs875989899

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.