ClinVar Miner

Variants from Robarts Research Institute,Western University with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Robarts Research Institute,Western University: Collection method of the submission from Robarts Research Institute,Western University:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
68 53 0 185 92 3 57 247

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Robarts Research Institute,Western University pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 0 4 3 0 0 0 0 0
likely pathogenic 103 0 18 12 3 1 1 1
uncertain significance 15 13 0 34 16 0 0 0
likely benign 2 2 39 0 53 0 1 0
benign 2 0 13 25 0 1 0 0

Submitter to submitter summary #

Total submitters: 121
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Invitae 0 64 0 108 27 0 6 140
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 11 0 88 3 0 18 109
Color 0 68 0 66 24 0 3 93
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 7 0 65 0 0 5 70
GeneDx 0 44 0 46 13 0 3 61
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 33 0 29 16 0 5 49
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 3 0 46 1 0 1 48
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 26 0 22 20 0 4 46
LDLR-LOVD, British Heart Foundation 0 99 0 27 7 0 11 45
Quest Diagnostics Nichols Institute San Juan Capistrano 0 29 0 37 4 0 1 42
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 49 0 22 4 0 15 41
Integrated Genetics/Laboratory Corporation of America 0 14 0 30 5 0 3 38
Fundacion Hipercolesterolemia Familiar 0 26 0 26 6 0 5 37
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 16 0 30 3 0 2 35
Illumina Clinical Services Laboratory,Illumina 0 36 0 18 9 0 2 29
OMIM 0 3 0 21 0 1 0 22
Iberoamerican FH Network 0 14 0 13 3 0 3 19
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 9 0 9 6 0 1 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 5 0 14 0 0 0 14
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 5 0 12 1 0 0 13
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 27 0 10 1 0 2 13
PreventionGenetics,PreventionGenetics 0 13 0 10 2 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 18 0 2 9 0 1 12
Fulgent Genetics,Fulgent Genetics 0 0 0 10 0 0 0 10
CSER _CC_NCGL, University of Washington 0 5 0 3 2 0 4 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 3 5 0 0 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 8 0 5 0 0 1 6
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 4 0 3 2 0 1 6
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 3 0 5 1 0 0 6
Athena Diagnostics Inc 0 3 0 5 0 0 1 5
Blueprint Genetics 0 1 0 4 1 0 0 5
Institute for Integrative and Experimental Genomics,University of Luebeck 0 7 0 2 1 0 2 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 1 0 1 5
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 3 1 0 1 4
Mendelics 0 0 0 1 1 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 3 0 0 0 3
Phosphorus, Inc. 0 0 0 0 3 0 0 3
Genetic Services Laboratory, University of Chicago 0 0 0 1 1 0 0 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 2 0 0 0 2
Baylor Genetics 0 0 0 1 0 0 0 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 1 1
Ambry Genetics 0 0 0 0 0 0 1 1
Clinical Biochemistry Laboratory,Health Services Laboratory 0 0 0 0 0 0 1 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 0 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 1 0 0 0 1
Counsyl 0 0 0 1 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 1 0 0 0 1
GeneReviews 0 3 0 1 0 0 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 1 0 0 0 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 1 0 0 1 1
PXE International 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 1 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 0 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 1 0 0 0 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Science and Research Branch, Islamic Azad University,Islamic Azad University 0 0 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Centre of Medical Genetics, University of Antwerp 0 0 0 1 0 0 0 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 1 0 0 0 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 1 0 0 0 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 1 1
Department of Clinical Genetics,Tartu University Hospital 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 1 0 0 0 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Human Genome and Stem Cell Research Center,Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo 0 0 0 1 0 0 1 1
Department of Pediatrics and Neonatology,Nagoya City University Graduate School of Medical Sciences 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
Geschwind lab,University of California Los Angeles 0 0 0 1 0 1 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 0 0 1 0 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 1 0 0 0 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
Zuffardi lab,University of Pavia 0 0 0 1 0 0 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 0 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 1 1
Tim Yu lab,Boston Children's Hospital 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 1 0 0 0 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 1 0 0 0 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 1 0 0 0 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 1 0 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 0 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 0 1
Raymond Lab,University of Cambridge 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 1 0 0 0 1
Department of Molecular Innovation in Lipidology, National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 1 0 0 0 1
Pharmacogenomics Lab,Chungbuk National University 0 0 0 0 0 1 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 0 0 0 0 0 1 1
Clinical Genetics Research Group,Karolinska Institutet 0 0 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 247
Download table as spreadsheet
HGVS dbSNP
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.3(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe) rs571485213
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr) rs12713540
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11904-7C>T rs12720851
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.3(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.3(APOB):c.12318A>G (p.Arg4106=) rs375795401
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.3(APOB):c.13160A>T (p.Glu4387Val) rs150412734
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.13680T>C (p.Thr4560=) rs72654427
NM_000384.3(APOB):c.1470+15T>C rs185550846
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.3(APOB):c.2068-4T>A rs41291161
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.3(APOB):c.2604+15G>C rs72653066
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr) rs139434026
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.3(APOB):c.3509-10G>A rs12720770
NM_000384.3(APOB):c.3509-11C>T rs200768300
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val) rs141225768
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.3(APOB):c.538-9C>T rs1800478
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.3(APOB):c.6261C>A (p.Thr2087=) rs61744855
NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195
NM_000384.3(APOB):c.8877G>A (p.Leu2959=) rs765899256
NM_000384.3(APOB):c.905-15C>G rs72653061
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.3(APOB):c.9855C>T (p.Ile3285=) rs72654403
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1060+9C>T rs540073140
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2427A>G (p.Leu809=) rs147191787
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195798.2(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_001195798.2(LDLR):c.1476_1477CT[1] (p.Ser493fs) rs869025453
NM_001195798.2(LDLR):c.1494_1495CT[1] (p.Ser499fs) rs879254922
NM_001195798.2(LDLR):c.168_170TGA[1] (p.Asp57del) rs879254421
NM_001195798.2(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_001195798.2(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195798.2(LDLR):c.820del (p.Thr274fs) rs751122998
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-1833del rs137853966
NM_001195800.2(LDLR):c.314-1838dup rs875989903
NM_001195800.2(LDLR):c.314-2019del rs1057516135
NM_001195800.2(LDLR):c.314-2146_314-2142del rs1057516132
NM_001195803.2(LDLR):c.680-8T>C rs72658861
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1354+9G>T rs72646516
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.609C>T (p.Thr203=) rs200856421
NM_174936.3(PCSK9):c.60_65dupGCTGCT rs35574083
NM_174936.3(PCSK9):c.63_65delGCT rs35574083
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.993C>T (p.Pro331=) rs376753957
Single allele

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