ClinVar Miner

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

Location: France  Primary collection method: clinical testing
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:
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
35 106 0 213 37 0 116 294

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
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 51 7 0 1
likely pathogenic 147 0 62 10 2
uncertain significance 18 18 0 7 4
likely benign 18 14 19 0 5
benign 3 2 9 10 0

Submitter to submitter summary #

Total submitters: 103
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 0 116 0 117 13 0 36 166
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 51 0 84 3 0 33 120
LDLR-LOVD, British Heart Foundation 0 229 0 47 5 0 52 104
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 78 0 85 0 0 19 104
All of Us Research Program, National Institutes of Health 0 38 0 38 9 0 36 83
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 48 0 28 11 0 44 83
Color Diagnostics, LLC DBA Color Health 0 54 0 43 8 0 32 83
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 38 0 53 1 0 19 73
Natera, Inc. 0 38 0 37 4 0 24 65
Revvity Omics, Revvity 0 28 0 31 3 0 15 49
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 22 0 34 2 0 9 45
Fundacion Hipercolesterolemia Familiar 0 56 0 21 3 0 20 44
Robarts Research Institute, Western University 0 48 0 21 2 0 15 38
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 36 0 15 9 0 13 37
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 40 0 17 3 0 16 36
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 16 0 24 1 0 10 35
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 22 0 22 1 0 11 34
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 22 3 0 8 33
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 25 0 16 0 0 12 28
Fulgent Genetics, Fulgent Genetics 0 14 0 18 3 0 5 26
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 14 0 17 0 0 8 25
Iberoamerican FH Network 0 30 0 10 2 0 11 23
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 0 12 1 0 9 22
Illumina Laboratory Services, Illumina 0 7 0 10 6 0 5 21
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 12 0 7 3 0 10 20
GENinCode PLC 0 19 0 14 0 0 5 19
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 24 0 9 0 0 9 18
OMIM 0 12 0 15 0 0 1 16
Variantyx, Inc. 0 2 0 8 0 0 6 14
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 45 0 3 3 0 6 12
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 6 0 6 1 0 2 9
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 6 0 7 1 0 1 9
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 3 0 2 1 0 6 9
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 2 0 6 1 0 1 8
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 7 0 0 1 8
MGZ Medical Genetics Center 0 5 0 4 0 0 4 8
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 8 0 7 0 0 1 8
3billion 0 5 0 3 0 0 4 7
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 3 0 3 1 0 3 7
Medical and Scientific Branch, Hong Kong Genome Institute 0 1 0 4 0 0 2 6
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 5 1 0 0 6
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 0 0 4 5
Institute for Integrative and Experimental Genomics, University of Luebeck 0 2 0 3 0 0 2 5
Mendelics 0 3 0 2 1 0 2 5
New York Genome Center 0 4 0 3 2 0 0 5
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 2 0 2 0 0 2 4
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 3 0 0 1 4
Institute of Human Genetics Munich, TUM University Hospital 0 3 0 2 0 0 2 4
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 5 0 2 0 0 2 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 0 0 1 0 0 3 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 2 0 0 2 4
Centre of Medical Genetics, University Hospital Muenster 0 0 0 3 0 0 0 3
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 2 0 0 1 3
Genetics and Molecular Pathology, SA Pathology 0 4 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 0 0 2 0 0 1 3
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 2 3
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 3 0 0 0 3
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 1 1 0 1 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 4 0 3 0 0 0 3
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1 1 0 1 3
Blueprint Genetics 0 3 0 1 0 0 1 2
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 0 0 1 1 0 0 2
Genome-Nilou Lab 0 1 0 0 2 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 1 0 0 2
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 1 0 2 0 0 0 2
Institute of Immunology and Genetics Kaiserslautern 0 2 0 0 0 0 2 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 2 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 3 0 0 0 0 2 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 1 0 0 1 2
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 3 0 2 0 0 0 2
Arcensus 0 0 0 0 0 0 1 1
Baylor Genetics 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 1 0 0 0 1
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1 0 0 0 1
Cohesion Phenomics 0 1 0 0 0 0 1 1
Dasa 0 1 0 1 0 0 0 1
Department of Clinical Genetics, Medical University of Lodz 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 1 0 0 0 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 1 0 1 0 0 0 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand 0 1 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 0 0 0 1 1
Genesolutions, Medical Genetics Institutes, Ho Chi Minh City, Vietnam 0 0 0 0 0 0 1 1
Genetics Department, Catlab 0 2 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 1 0 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Khoo Teck Puat Hospital, NHG Health 0 0 0 0 0 0 1 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 0 0 0 1 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 0 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
SNPedia 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Suma Genomics 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 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 294
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263 0.02744
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277 0.00409
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963 0.00066
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00063
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) rs148698650 0.00038
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) rs143992984 0.00026
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.185C>T (p.Thr62Met) rs376207800 0.00011
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp) rs200990725 0.00010
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu) rs201573863 0.00009
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00009
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 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.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.1358+7G>A rs369709333 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 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.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_174936.4(PCSK9):c.1773C>G (p.His591Gln) rs529912877 0.00004
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 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.343C>T (p.Arg115Cys) rs774723292 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_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 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.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1187-10G>A rs765696008 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 0.00002
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg) rs150021927 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_174936.4(PCSK9):c.616G>A (p.Glu206Lys) rs753857795 0.00002
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352 0.00001
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp) rs879254797 0.00001
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp) rs121908043 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp) rs570942190 0.00001
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849 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.131G>A (p.Trp44Ter) rs267607213 0.00001
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) rs778284147 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083 0.00001
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter) rs121908031 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.2548-12A>G rs771336748 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906 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.761A>C (p.Gln254Pro) rs879254667 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 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.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) rs778738291 0.00001
NM_174936.4(PCSK9):c.743G>A (p.Arg248His) rs749573024 0.00001
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
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.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
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.1487G>T (p.Gly496Val) rs751603969
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1496_1497del (p.Ser499fs) rs879254922
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser) rs875989923
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.5(LDLR):c.1586+1G>A rs755389753
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-2A>T rs879254947
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1606T>G (p.Trp536Gly) rs879254956
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.5(LDLR):c.1687C>T (p.Pro563Ser) rs879254986
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr) rs879254993
NM_000527.5(LDLR):c.1706-2A>T rs878854027
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.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro) rs1057519675
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1773_1774delinsT (p.Gly593fs) rs1057519676
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845+2T>C rs778408161
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.1856T>C (p.Phe619Ser) rs879255054
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg) rs376207800
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del) rs879255062
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu) rs1057519680
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.5(LDLR):c.2068dup (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2287dup (p.Glu763fs) rs1057519686
NM_000527.5(LDLR):c.2311+1G>T rs879255175
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.5(LDLR):c.2390-1G>C rs879255193
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.244T>G (p.Cys82Gly) rs879254447
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+1dup rs879254466
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+5G>A rs879254467
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys) rs730882082
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
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.464G>A (p.Cys155Tyr) rs879254536
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.647G>A (p.Cys216Tyr) rs879254611
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.67+2T>A rs879254394
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu) rs1057519658
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.683A>G (p.Glu228Gly) rs879254642
NM_000527.5(LDLR):c.693C>G (p.Cys231Trp) rs121908035
NM_000527.5(LDLR):c.694+1G>T rs879254646
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr) rs121908040
NM_000527.5(LDLR):c.81C>A (p.Cys27Ter) rs2228671
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.865del (p.Cys289fs) rs879254696
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+1G>A rs879254729
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.961AAC[1] (p.Asn322del) rs879254741
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.967G>T (p.Gly323Cys) rs373869746
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) rs879254749

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