ClinVar Miner

Variants in gene VLDLR with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln) rs139671268 0.00141
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00108
NM_003383.5(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944 0.00053
NM_003383.5(VLDLR):c.2371G>A (p.Val791Ile) rs35334949 0.00051
NM_003383.5(VLDLR):c.1313G>A (p.Gly438Asp) rs200605669 0.00050
NM_003383.5(VLDLR):c.792C>T (p.Cys264=) rs141850403 0.00036
NM_003383.5(VLDLR):c.1532A>G (p.Asn511Ser) rs182216426 0.00026
NM_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_003383.5(VLDLR):c.315A>G (p.Pro105=) rs138500615 0.00009
NM_003383.5(VLDLR):c.104C>T (p.Pro35Leu) rs113809568 0.00007
NM_003383.5(VLDLR):c.1188T>C (p.Asp396=) rs371219585 0.00003
NM_003383.5(VLDLR):c.1245C>T (p.Gly415=) rs746308049 0.00003
NM_003383.5(VLDLR):c.1343G>A (p.Arg448Gln) rs137946976 0.00001
NM_003383.5(VLDLR):c.1782G>A (p.Leu594=) rs376819187 0.00001
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003383.5(VLDLR):c.203-4G>A

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.