ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix and "pathogenic" from any submitter

Minimum review status of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix: Collection method of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
Download table as spreadsheet
HGVS dbSNP
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772

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.