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:

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 per condition Variants with at least 2 submissions on the same condition 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 conflict
80 52 0 179 66 0 62 236

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
pathogenic 0 7 2 0 0
likely pathogenic 117 0 26 10 1
uncertain significance 18 16 0 20 9
likely benign 2 2 30 0 42
benign 1 0 10 13 0

Submitter to submitter summary #

Total submitters: 97
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
Labcorp Genetics (formerly Invitae), Labcorp 0 21 0 108 8 0 17 133
Color Diagnostics, LLC DBA Color Health 0 66 0 85 16 0 8 109
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 11 0 87 2 0 16 105
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 7 0 65 1 0 4 70
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 5 0 63 2 0 5 70
All of Us Research Program, National Institutes of Health 0 20 0 53 3 0 4 60
GENinCode PLC 0 41 0 50 4 0 1 55
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 26 0 37 4 0 12 53
Revvity Omics, Revvity 0 14 0 44 2 0 4 50
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 33 0 29 16 0 5 49
Natera, Inc. 0 27 0 41 2 0 6 49
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 4 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 0 100 0 27 6 0 11 44
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 16 0 34 0 0 4 38
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 48 0 21 2 0 15 38
Fundacion Hipercolesterolemia Familiar 0 26 0 26 6 0 6 38
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 11 0 31 3 0 3 37
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 20 2 0 4 26
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 24 0 0 1 25
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 13 0 20 0 0 4 24
OMIM 0 1 0 21 0 0 0 21
Fulgent Genetics, Fulgent Genetics 0 7 0 18 1 0 1 20
Iberoamerican FH Network 0 14 0 13 3 0 3 19
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 10 0 6 1 0 7 14
Juno Genomics, Hangzhou Juno Genomics, Inc 0 3 0 13 0 0 1 14
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 8 0 11 0 0 3 14
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 27 0 10 1 0 2 13
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 0 0 13 0 0 0 13
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 12 0 0 0 12
Illumina Laboratory Services, Illumina 0 7 0 6 4 0 0 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 5 0 3 5 0 0 8
Variantyx, Inc. 0 3 0 7 0 0 1 8
3billion 0 4 0 7 0 0 0 7
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 7 0 0 0 7
MGZ Medical Genetics Center 0 2 0 5 0 0 2 7
Mendelics 0 0 0 7 0 0 0 7
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
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 3 0 2 0 0 4 6
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 5 0 0 1 6
Blueprint Genetics 0 1 0 4 1 0 0 5
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 4 0 0 1 5
Genetics and Molecular Pathology, SA Pathology 0 2 0 5 0 0 0 5
Institute for Integrative and Experimental Genomics, University of Luebeck 0 7 0 2 1 0 2 5
Institute of Human Genetics, University Hospital of Duesseldorf 0 0 0 5 0 0 0 5
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 4 0 0 1 5
Cohesion Phenomics 0 6 0 4 0 0 0 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 3 0 0 1 4
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 3 1 0 0 4
New York Genome Center 0 1 0 3 1 0 0 4
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 0 0 4 0 0 0 4
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 0 0 4 0 0 0 4
Centre of Medical Genetics, University Hospital Muenster 0 0 0 3 0 0 0 3
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 2 0 0 1 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 1 0 3 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 2 1 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 0 0 3 0 0 0 3
Arcensus 0 0 0 2 0 0 0 2
Baylor Genetics 0 0 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 2 0 0 0 2
Clinical Genomics Laboratory, Washington University in St. Louis 0 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 2 0 0 0 2
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 0 0 2 0 0 0 2
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 2 0 2 0 0 0 2
Institute of Human Genetics Munich, TUM University Hospital 0 2 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 2 0 0 0 2
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 2 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 2 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 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
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
GeneReviews 0 0 0 1 0 0 0 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 1 0 0 0 1
Genome-Nilou Lab 0 2 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 1 0 1 0 0 0 1
Khoo Teck Puat Hospital, NHG Health 0 0 0 1 0 0 0 1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 2 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 3 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 236
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026 0.03579
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450 0.03392
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263 0.02744
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554 0.02731
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761 0.02591
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192 0.02253
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02201
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558 0.02176
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847 0.01812
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699 0.01706
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852 0.01624
NM_000384.3(APOB):c.3509-10G>A rs12720770 0.01624
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855 0.01525
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299 0.01522
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00824
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854 0.00761
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681 0.00709
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023 0.00669
NM_000527.5(LDLR):c.1061-8T>C rs72658861 0.00640
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194 0.00578
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703 0.00562
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00560
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423 0.00557
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00544
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00376
NM_000384.3(APOB):c.6261C>A (p.Thr2087=) rs61744855 0.00366
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00326
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00316
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) rs61742331 0.00256
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288 0.00256
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002 0.00255
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00249
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087 0.00247
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198 0.00229
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077 0.00198
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00180
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000384.3(APOB):c.2068-4T>A rs41291161 0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00102
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195 0.00080
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196 0.00073
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00063
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783 0.00058
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00044
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751 0.00034
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00025
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) rs141673997 0.00019
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp) rs200990725 0.00010
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00010
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00009
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp) rs141593516 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00007
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp) rs28941776 0.00004
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00004
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu) rs28942084 0.00004
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr) rs139434026 0.00003
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu) rs137929307 0.00003
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00003
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys) rs746118995 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554 0.00003
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu) rs121908026 0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) rs373822756 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844 0.00003
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365 0.00002
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser) rs730882096 0.00002
NM_000527.5(LDLR):c.1187-10G>A rs765696008 0.00002
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) rs121908039 0.00002
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1060+2T>G rs774069731 0.00001
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1285G>A (p.Val429Met) rs28942078 0.00001
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr) rs28942079 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1586+12C>T rs777953287 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.191-2A>G rs544203837 0.00001
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083 0.00001
NM_000527.5(LDLR):c.2029T>C (p.Cys677Arg) rs775092314 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.314-2A>C rs879254470 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.680_681del (p.Asp227fs) rs387906305 0.00001
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter) rs121908035 0.00001
NM_000527.5(LDLR):c.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909 0.00001
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1091G>A (p.Cys364Tyr) rs879254788
NM_000527.5(LDLR):c.1118_1121dup (p.Tyr375fs) rs875989916
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>C rs193922567
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) rs879254922
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.233del (p.Arg78fs) rs1057516129
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.5(LDLR):c.2389+1G>T rs879255186
NM_000527.5(LDLR):c.2389+2T>G rs879255188
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del) rs875989944
NM_000527.5(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2478del (p.Val827fs) rs747344293
NM_000527.5(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.5(LDLR):c.340_344del (p.Phe114fs) rs1057516132
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.653del (p.Gly218fs) rs137853966
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.68-1G>A rs879254397
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.5(LDLR):c.695-1G>A rs879254652
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.905del (p.Cys302fs) rs1057516130
NM_000527.5(LDLR):c.906C>G (p.Cys302Trp) rs879254716
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
Single allele

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