ClinVar Miner

Variants from U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille with conflicting interpretations

Location: France  Primary collection method: clinical testing
Minimum review status of the submission from U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille: Collection method of the submission from U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille:
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
38 73 0 209 7 0 82 235

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
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 187 45 14 4
likely pathogenic 17 0 25 13 6
uncertain significance 0 0 0 2 2
likely benign 1 1 5 0 5

Submitter to submitter summary #

Total submitters: 80
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
LDLR-LOVD, British Heart Foundation 0 93 0 146 1 0 25 172
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 78 0 85 0 0 19 104
Robarts Research Institute, Western University 0 7 0 65 1 0 4 70
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 51 0 28 1 0 27 56
Fundacion Hipercolesterolemia Familiar 0 38 0 30 2 0 15 47
Labcorp Genetics (formerly Invitae), Labcorp 0 164 0 22 2 0 23 47
Color Diagnostics, LLC DBA Color Health 0 75 0 21 2 0 21 44
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 16 0 33 1 0 3 37
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 26 0 14 3 0 14 31
Natera, Inc. 0 60 0 17 0 0 11 28
All of Us Research Program, National Institutes of Health 0 62 0 16 1 0 10 27
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 31 0 17 1 0 8 26
Iberoamerican FH Network 0 17 0 14 1 0 10 25
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 118 0 14 2 0 7 23
Revvity Omics, Revvity 0 53 0 13 1 0 3 17
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 12 0 6 0 0 10 16
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 30 0 13 1 0 2 16
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 31 0 15 0 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 0 24 0 8 1 0 5 14
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 15 0 14 0 0 0 14
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 22 0 12 0 0 0 12
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 6 0 0 3 9
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 1 0 5 1 0 3 9
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 36 0 6 0 0 2 8
Fulgent Genetics, Fulgent Genetics 0 25 0 6 0 0 2 8
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 3 0 1 1 0 5 7
Illumina Laboratory Services, Illumina 0 12 0 1 1 0 5 7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 85 0 7 0 0 0 7
Juno Genomics, Hangzhou Juno Genomics, Inc 0 17 0 6 0 0 0 6
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 52 0 5 0 0 0 5
GENinCode PLC 0 23 0 1 0 0 4 5
MGZ Medical Genetics Center 0 6 0 4 0 0 1 5
New York Genome Center 0 3 0 1 0 0 4 5
3billion 0 9 0 3 0 0 1 4
Genome-Nilou Lab 0 0 0 1 1 0 2 4
Institute of Human Genetics Munich, TUM University Hospital 0 4 0 4 0 0 0 4
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 3 0 0 0 3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 10 0 2 0 0 1 3
Genetics and Molecular Pathology, SA Pathology 0 4 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 0 1 0 2 3
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 2 0 3 0 0 0 3
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 8 0 3 0 0 0 3
Mendelics 0 6 0 0 0 0 3 3
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 1 0 3 0 0 0 3
Variantyx, Inc. 0 9 0 3 0 0 0 3
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 1 0 2 0 0 0 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 9 0 1 0 0 1 2
Institute of Immunology and Genetics Kaiserslautern 0 3 0 2 0 0 0 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 2 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 3 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 7 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 0 0 1 0 0 0 1
Blueprint Genetics 0 3 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 2 0 0 0 0 1 1
Cohesion Phenomics 0 0 0 0 0 0 1 1
Dasa 0 1 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 0 1 1
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 7 0 1 0 0 0 1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 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, Cologne University 0 0 0 1 0 0 0 1
Institute of Human Genetics, Heidelberg University 0 2 0 1 0 0 0 1
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 4 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 1 0 0 0 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 1 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 5 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 1 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 4 0 1 0 0 0 1
Pars Genome Lab 0 0 0 0 0 0 1 1
Phosphorus, Inc. 0 0 0 0 0 0 1 1
SNPedia 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 13 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 0 0 0 1 1
deCODE genetics, Amgen 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 235
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
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_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
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.1876G>A (p.Glu626Lys) rs139791325 0.00021
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.1503G>A (p.Ala501=) rs368889457 0.00008
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.910G>A (p.Asp304Asn) rs121908030 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.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_000527.5(LDLR):c.-286C>G rs989307060 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
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.1897C>T (p.Arg633Cys) rs746118995 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 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.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
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.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp) rs373371572 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_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00002
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791 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.1133A>C (p.Gln378Pro) rs730882098 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.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.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.136T>G (p.Cys46Gly) rs879254415 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 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.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 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.2079G>A (p.Lys693=) rs551528700 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.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.313+2T>C rs793888517 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 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.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909 0.00001
NC_000019.10:g.11089452G>A rs944580031
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.-142C>G rs879254370
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.5(LDLR):c.1028G>A (p.Gly343Asp) rs879254760
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1174T>C (p.Cys392Arg) rs879254814
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1187-1G>A rs879254824
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.1223A>C (p.Glu408Ala) rs879254838
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.5(LDLR):c.1255T>G (p.Tyr419Asp) rs879254847
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
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.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.5(LDLR):c.1427C>T (p.Pro476Leu) rs1131692208
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
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.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1558A>G (p.Arg520Gly) rs879254939
NM_000527.5(LDLR):c.155G>A (p.Cys52Tyr) rs879254418
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1586+2T>C rs879254945
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1625T>G (p.Ile542Ser) rs879254962
NM_000527.5(LDLR):c.1629_1652del (p.Lys543_Asp551delinsAsn) rs879254963
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.166T>C (p.Ser56Pro) rs878854026
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
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.1703T>C (p.Leu568Pro) rs879254991
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
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.1829_1831del (p.Ser610del) rs879255037
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.5(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
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.1880C>A (p.Ala627Asp) rs875989934
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.2001T>G (p.Cys667Trp) rs879255109
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2087G>A (p.Cys696Tyr) rs879255134
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
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.2389G>T (p.Val797Leu) 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.245G>A (p.Cys82Tyr) rs879254448
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
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.313+1dup rs879254466
NM_000527.5(LDLR):c.313+2T>A rs793888517
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313_313+1del rs875989896
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.382T>C (p.Cys128Arg) rs879254505
NM_000527.5(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.416A>T (p.Asp139Val) rs879254518
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) rs879254526
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.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu) rs879254543
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.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.532G>C (p.Asp178His) rs879254565
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
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.551G>C (p.Cys184Ser) rs121908039
NM_000527.5(LDLR):c.613C>G (p.Leu205Val) rs1131692196
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.67+2T>A rs879254394
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
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.682G>C (p.Glu228Gln) rs121908029
NM_000527.5(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.5(LDLR):c.743G>T (p.Cys248Phe) rs879254663
NM_000527.5(LDLR):c.767A>G (p.Asp256Gly) rs879254670
NM_000527.5(LDLR):c.805G>A (p.Gly269Ser) rs1131692200
NM_000527.5(LDLR):c.818-1G>A rs879254688
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.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.905G>T (p.Cys302Phe) rs879254715
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.921T>G (p.Asp307Glu) rs879254720
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940+2T>A rs875989912
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.970G>A (p.Gly324Ser) rs72658860
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) rs879254749

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