ClinVar Miner

Variants from Fundacion Hipercolesterolemia Familiar with conflicting interpretations

Location: Spain  Primary collection method: research
Minimum review status of the submission from Fundacion Hipercolesterolemia Familiar: Collection method of the submission from Fundacion Hipercolesterolemia Familiar:
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
39 84 0 114 27 0 96 206

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
Fundacion Hipercolesterolemia Familiar pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 49 4 2 0
likely pathogenic 58 0 12 6 0
uncertain significance 53 54 0 20 15
likely benign 1 1 3 0 4
benign 1 1 2 3 0

Submitter to submitter summary #

Total submitters: 84
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 0 143 0 36 13 0 50 99
Labcorp Genetics (formerly Invitae), Labcorp 0 71 0 48 11 0 39 98
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 47 0 39 7 0 33 79
Color Diagnostics, LLC DBA Color Health 0 50 0 25 12 0 21 58
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 56 0 15 6 0 30 51
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 25 0 23 3 0 22 48
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 38 0 30 2 0 15 47
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 56 0 21 3 0 20 44
Robarts Research Institute, Western University 0 26 0 26 6 0 6 38
All of Us Research Program, National Institutes of Health 0 42 0 18 3 0 16 37
Natera, Inc. 0 33 0 17 5 0 15 37
Revvity Omics, Revvity 0 27 0 19 0 0 8 27
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 23 0 16 0 0 8 24
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 21 0 10 2 0 10 22
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 20 0 18 0 0 3 21
GENinCode PLC 0 17 0 11 8 0 2 21
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 18 0 6 0 0 11 17
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 17 0 5 0 0 10 15
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 13 0 7 0 0 7 14
Fulgent Genetics, Fulgent Genetics 0 17 0 12 0 0 1 13
Illumina Laboratory Services, Illumina 0 6 0 7 3 0 3 13
Institute of Human Genetics, University of Leipzig Medical Center 0 13 0 8 2 0 3 13
Juno Genomics, Hangzhou Juno Genomics, Inc 0 8 0 5 0 0 8 13
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 9 0 4 0 0 6 10
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 67 0 0 0 0 8 8
3billion 0 3 0 3 0 0 4 7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 13 0 3 0 0 4 7
MGZ Medical Genetics Center 0 3 0 2 0 0 5 7
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 5 0 2 3 0 1 6
OMIM 0 15 0 4 0 0 2 6
Variantyx, Inc. 0 3 0 3 0 0 3 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 11 0 2 3 0 0 5
Institute for Integrative and Experimental Genomics, University of Luebeck 0 2 0 4 0 0 1 5
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 3 0 0 2 5
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 5 0 2 0 0 3 5
New York Genome Center 0 3 0 3 0 0 2 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 2 0 1 0 0 3 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 2 0 0 2 4
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 3 0 0 1 4
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 2 0 3 0 0 1 4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 47 0 0 0 0 3 3
Cohesion Phenomics 0 0 0 0 3 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 1 2 0 0 3
Hadassah Hebrew University Medical Center 0 0 0 0 0 0 3 3
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 0 0 2 3
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 2 0 1 0 0 1 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 2 0 1 0 0 1 2
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 7 0 1 0 0 1 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 2 0 0 0 2
Genome-Nilou Lab 0 0 0 0 1 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 1 2
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 3 0 1 0 0 1 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 5 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 2 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 0 0 0 2 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 2 0 0 0 2
Mendelics 0 4 0 1 1 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 1 0 2 0 0 0 2
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 3 0 0 0 0 2 2
Arcensus 0 1 0 1 0 0 0 1
Baylor Genetics 0 0 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 0 0 0 1 1
Blueprint Genetics 0 3 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 0 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 1 0 1 0 0 0 1
Dasa 0 1 0 0 0 0 1 1
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 2 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 0 0 0 1 1
Division of Medical Genetics, University of Washington 0 0 0 0 0 0 1 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 0 0 0 1 1
GeneReviews 0 0 0 0 0 0 1 1
Iberoamerican FH Network 0 45 0 0 0 0 1 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 1 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 1 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 2 0 1 0 0 0 1
Provincial Medical Genetics Program of British Columbia, University of British Columbia 0 0 0 1 0 0 0 1
Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences 0 2 0 1 0 0 0 1
Suma Genomics 0 0 0 0 0 0 1 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 206
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02201
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000527.5(LDLR):c.-268G>T rs17249134 0.00679
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.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_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_000527.5(LDLR):c.941-39C>T rs55792959 0.00407
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00316
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559 0.00050
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00034
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) rs143992984 0.00026
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.185C>T (p.Thr62Met) rs376207800 0.00011
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp) rs200990725 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_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 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.1247G>A (p.Arg416Gln) rs773658037 0.00003
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg) rs144614838 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.2375T>C (p.Ile792Thr) rs764493597 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.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365 0.00002
NM_000527.5(LDLR):c.-23A>C rs763282380 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.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_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 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.1135T>C (p.Cys379Arg) rs879254803 0.00001
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356 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.1359-1G>A rs139617694 0.00001
NM_000527.5(LDLR):c.1436T>C (p.Leu479Pro) rs879254900 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.191-2A>G rs544203837 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.1981C>A (p.Pro661Thr) rs1182317785 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.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.470G>A (p.Ser157Asn) rs1555803280 0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=) rs565675103 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
FH Bologna 2
FH Cape Town 2
FH Vancouver 4
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT rs879254365
NC_000019.10:g.11089409C>G rs875989887
NC_000019.10:g.11089413C>G rs879254374
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.5(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1359-1G>C rs139617694
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
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+5G>A rs781362878
NM_000527.5(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.5(LDLR):c.1706-2A>C rs878854027
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1749C>G (p.His583Gln) rs879255009
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del) rs879255062
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.191-2delinsCT rs879254432
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1988-2A>T rs879255101
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.5(LDLR):c.2389+4A>G rs758493597
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.240C>A (p.Asn80Lys) rs879254444
NM_000527.5(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_000527.5(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.2544dup (p.Ser849fs) rs879255222
NM_000527.5(LDLR):c.267C>G (p.Cys89Trp) rs777640882
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+5G>A rs879254467
NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) rs879254482
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
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.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) rs875989902
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
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.661G>T (p.Asp221Tyr) rs875989906
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.665G>A (p.Cys222Tyr) rs730882086
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.67+1G>T rs762417023
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.672_686del (p.Asp224_Glu228del) rs1555803439
NM_000527.5(LDLR):c.676T>C (p.Ser226Pro) rs879254635
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala) rs879254680
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>G (p.Cys276Gly) rs879254692
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr) rs879254746
Single allele
c.(?_-187)_(190+1_191-1)del

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