ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" 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 Integrated Genetics/Laboratory Corporation of America

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: 32
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs0
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) rs0
NM_000527.5(LDLR):c.1187-10G>A rs0
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs0
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs0
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs0
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs0
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs0
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs0
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp) rs0
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs0
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs0
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs0
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) rs0
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs0
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs0
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu) rs0
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) rs0
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) rs0
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027

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.