ClinVar Miner

Variants from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge with conflicting interpretations

Location: Portugal — Primary collection method: research
Minimum review status of the submission from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge: Collection method of the submission from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge:
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
62 94 0 144 72 5 73 242

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
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective
pathogenic 0 61 11 6 2 1 1 1
likely pathogenic 40 0 11 5 1 0 0 0
uncertain significance 23 29 0 60 32 1 1 1
likely benign 1 1 4 0 7 0 0 0
benign 3 2 5 36 0 1 3 0

Submitter to submitter summary #

Total submitters: 136
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
LDLR-LOVD, British Heart Foundation 0 140 0 58 21 0 28 107
Invitae 0 54 0 18 30 0 14 60
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 70 0 28 12 0 20 60
Illumina Clinical Services Laboratory,Illumina 0 4 0 32 21 0 3 55
Color 0 54 0 12 37 0 6 55
Robarts Research Institute,Western University 0 33 0 29 16 0 5 49
GeneDx 0 43 0 9 31 0 4 43
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 43 0 18 3 0 16 37
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 31 0 17 0 0 9 26
Quest Diagnostics Nichols Institute San Juan Capistrano 0 9 0 7 14 0 1 22
Integrated Genetics/Laboratory Corporation of America 0 19 0 5 8 0 6 19
PreventionGenetics,PreventionGenetics 0 24 0 7 11 0 0 18
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 25 0 11 0 0 7 18
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 33 0 4 6 0 6 16
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 21 0 8 1 0 3 12
OMIM 0 20 0 7 0 1 0 8
Genetic Services Laboratory, University of Chicago 0 3 0 7 1 0 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 4 0 3 5 0 0 8
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 4 0 4 3 0 1 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 5 0 3 0 0 3 6
CSER _CC_NCGL, University of Washington 0 9 0 1 1 0 4 6
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 2 2 0 2 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 4 0 4 2 0 0 6
CeGaT Praxis fuer Humangenetik Tuebingen 0 8 0 1 3 0 2 6
GeneReviews 0 1 0 2 0 0 3 5
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 7 0 4 0 0 1 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 21 0 0 5 0 0 5
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 11 0 5 0 0 0 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 70 0 0 0 0 4 4
Athena Diagnostics Inc 0 4 0 1 2 0 1 3
Mendelics 0 2 0 0 2 0 1 3
Fulgent Genetics,Fulgent Genetics 0 6 0 3 0 0 0 3
Pharmacogenomics Lab,Chungbuk National University 0 0 0 0 0 3 0 3
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 1 1 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 2 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 47 0 0 0 0 2 2
Baylor Genetics 0 0 0 1 0 0 1 1
Collagen Diagnostic Laboratory,University of Washington 0 0 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 0 0 0 0 1 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 0 0 0 1 1
Ambry Genetics 0 1 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 0 0 0 1 1
Genetics - Viapath,Viapath, Guy's Hospital 0 0 0 0 0 0 1 1
Counsyl 0 0 0 0 0 0 1 1
Columbia University Laboratory of Personalized Genomic Medicine,Columbia University Medical Center 0 0 0 0 0 0 1 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 1 1
Academic Department of Medical Genetics, University of Cambridge 0 0 0 0 0 0 1 1
Blueprint Genetics 0 3 0 1 0 0 0 1
PXE International 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 0 0 1 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 1 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 1 1
University of British Columbia 0 0 0 1 0 0 1 1
Department of Molecular Endocrinology,National Research Institute for Child Health and Development 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Pediatric Research,Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine 0 0 0 0 0 0 1 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 0 0 0 1 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 0 0 0 1 1
Institute for Ophthalmic Research,University Tuebingen 0 0 0 0 0 0 1 1
Dobyns Lab,Seattle Children's Research Institute 0 0 0 0 0 0 1 1
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 0 0 1 0 0 1 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 0 0 0 1 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Oxford Medical Genetics Laboratories,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 0 1 1
Prof. Thelma's Laboratory, Department of Genetics,University of Delhi South Campus 0 0 0 1 0 0 1 1
Ludwig Lab, Institute of Human Genetics, University Hospital Bonn 0 0 0 1 0 0 1 1
Laboratory of Genetics, AOUP,Azienda Ospedaliera Universitaria Pisana 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 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 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 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 0 0 0 1 1
Department of Medical Biochemistry and Genetics,University of Turku 0 0 0 1 0 0 1 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 397 0 0 0 0 0 1 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 0 0 0 1 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 0 0 0 1 1
Metabolic Liver Diseases Lab,Fondazione IRCCS Ca Granda Policlinico, University of Milan 0 0 0 0 0 0 1 1
Zuffardi lab,University of Pavia 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 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 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 1 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Laboratoire de Biologie et Génétique du Cancer,Centre François Baclesse 0 0 0 0 0 0 1 1
Medical Genetics Laboratory,Aldo Moro University of Bari 0 0 0 0 0 0 1 1
Herman Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Iberoamerican FH Network 0 47 0 0 0 0 1 1
Department of Medical Sciences,Uppsala University 0 0 0 0 0 0 1 1
Department of Obstetrics and Gynecology,Helsinki University Hospital 0 0 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 1 1
Yang An-Suei Laboratory,Academia Sinica 0 0 0 0 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 0 0 0 1 1
Biologia e Medicina Molecolare, Sapienza University of Rome 0 0 0 0 0 0 1 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 1 0 1 1
Molecular Genetics Laboratory,State University of Campinas 0 0 0 1 0 0 1 1
Emory University School of Medicine, Department of Human Genetics,Emory University 0 0 0 0 0 0 1 1
Clinical genetics,CHU Grenoble-Alpes 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 1 1
Reproductive Development, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 1 0 1 0 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 1 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 0 0 1 0 0 1 1
Raymond Lab,University of Cambridge 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Mayo Clinic Genomics Laboratory,Mayo Clinic 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 1 1
Inherited Eye Disorders lab,UCL Institute of Ophthalmology 0 0 0 0 0 0 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 0 1 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 0 0 0 1 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: 242
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
NM_000384.3(APOB):c.-115C>G rs1800480
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
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.10913G>A (p.Arg3638Gln) rs1801701
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.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.1280G>A (p.Arg427Gln) rs755407886
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
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.1470+15T>C rs185550846
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.3(APOB):c.26_34TGGCGCTGC[1] (p.9_11LAL[1]) rs17240441
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548
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.5768A>G (p.His1923Arg) rs533617
NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.3(APOB):c.905-15C>G rs72653061
NM_000384.3(APOB):c.905-16A>C rs12720810
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.*52G>A rs14158
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-208A>T rs879254361
NM_000527.4(LDLR):c.-215A>G rs879254360
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.-36T>G rs879254378
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
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.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+1G>A rs730880131
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.4(LDLR):c.1383C>T (p.Gly461=) rs764929176
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+2T>A rs879254945
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1705+1G>C rs875989926
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.4(LDLR):c.1845+11C>G rs370245937
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+1del rs879255048
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.190+2_190+3dup rs879254429
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2140+86C>G rs587776886
NM_000527.4(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.4(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.2291T>C (p.Ile764Thr) rs759440817
NM_000527.4(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.4(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.4(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2575G>A (p.Val859Met) rs202049029
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
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+1G>C rs112029328
NM_000527.4(LDLR):c.313+1G>T rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+6T>C rs879254468
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
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.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
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.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
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.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.940+2T>C rs875989912
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195798.2(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_001195798.2(LDLR):c.2392_2394CTC[1] (p.Leu799del) rs879255195
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195799.2(LDLR):c.190+2420G>C rs750474121
NM_001195800.2(LDLR):c.314-1795T>C rs746091400
NM_001195800.2(LDLR):c.314-1825G>T rs875989906
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-1855C>G rs771917370
NM_001195800.2(LDLR):c.314-1972G>T rs879254554
NM_001195803.2(LDLR):c.1606+202C>T rs2569548
NM_001195803.2(LDLR):c.680-8T>C rs72658861
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.1863+6G>A rs568853401
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.3(PCSK9):c.386A>G (p.Asp129Gly) rs1553135971
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.60_65dupGCTGCT rs35574083
NM_174936.3(PCSK9):c.63_65delGCT rs35574083
NM_174936.3(PCSK9):c.63_65dupGCT rs35574083
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
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.799+3A>G rs2495477
Single allele
c.(1186+1_1187-1)_(2140+1_2141-1)dup
c.(?_-187)_(190+1_191-1)del

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