ClinVar Miner

Variants from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum with conflicting interpretations

Location: Netherlands  Primary collection method: research
Minimum review status of the submission from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum: Collection method of the submission from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum:
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
118 104 0 439 45 0 241 558

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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 370 207 57 16
uncertain significance 0 0 0 1 1
benign 6 15 44 69 0

Submitter to submitter summary #

Total submitters: 98
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 0 110 0 302 4 0 67 373
Color Diagnostics, LLC DBA Color Health 0 123 0 82 13 0 80 175
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 63 0 55 12 0 102 169
Labcorp Genetics (formerly Invitae), Labcorp 0 304 0 52 12 0 61 125
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 51 0 84 3 0 33 120
All of Us Research Program, National Institutes of Health 0 67 0 59 9 0 47 115
Robarts Research Institute, Western University 0 11 0 87 2 0 16 105
Natera, Inc. 0 80 0 52 3 0 30 85
Fundacion Hipercolesterolemia Familiar 0 47 0 39 7 0 33 79
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 42 0 25 9 0 29 63
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 18 0 52 2 0 5 59
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 68 0 28 12 0 18 58
Iberoamerican FH Network 0 24 0 20 4 0 18 42
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 33 0 37 0 0 2 39
Revvity Omics, Revvity 0 63 0 29 4 0 5 38
Fulgent Genetics, Fulgent Genetics 0 26 0 15 3 0 15 33
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 137 0 25 2 0 4 31
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 8 0 8 2 0 16 26
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 50 0 14 1 0 10 25
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 25 0 25 0 0 0 25
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 18 0 24 0 0 0 24
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 48 0 16 1 0 6 23
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 0 0 11 6 0 6 23
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 118 0 14 2 0 7 23
Institute of Human Genetics, University of Leipzig Medical Center 0 28 0 9 3 0 10 22
Illumina Laboratory Services, Illumina 0 19 0 6 6 0 8 20
GENinCode PLC 0 60 0 13 0 0 6 19
Juno Genomics, Hangzhou Juno Genomics, Inc 0 23 0 12 0 0 2 14
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 3 0 7 1 0 5 13
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 7 0 0 5 12
MGZ Medical Genetics Center 0 7 0 9 0 0 2 11
Variantyx, Inc. 0 8 0 10 0 0 0 10
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 9 0 6 1 0 1 8
New York Genome Center 0 4 0 4 2 0 2 8
3billion 0 11 0 6 0 0 1 7
Ambry Genetics 0 3 0 2 1 0 4 7
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 73 0 2 2 0 3 7
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 17 0 6 1 0 0 7
Genome-Nilou Lab 0 13 0 3 3 0 1 7
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 6 0 0 0 6
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 20 0 4 0 0 2 6
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 6 0 4 0 0 2 6
GeneDx 0 3 0 2 0 0 3 5
Institute of Human Genetics Munich, TUM University Hospital 0 3 0 5 0 0 0 5
Mendelics 0 8 0 0 1 0 4 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 7 0 2 1 0 2 5
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 1 0 2 0 0 2 4
Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz 0 1 0 2 0 0 2 4
Genetics and Molecular Pathology, SA Pathology 0 6 0 3 1 0 0 4
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 1 0 3 1 0 0 4
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 6 0 2 0 0 2 4
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 0 0 1 0 3 4
Cohesion Phenomics 0 18 0 1 0 0 2 3
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 3 0 3 0 0 0 3
Institute of Immunology and Genetics Kaiserslautern 0 4 0 2 0 0 1 3
PreventionGenetics, part of Exact Sciences 0 2 0 1 0 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1 0 0 0 0 2 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 2 0 0 0 2
Blueprint Genetics 0 3 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 1 0 1 0 0 1 2
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 2 0 0 0 2
Genetic Services Laboratory, University of Chicago 0 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 6 0 2 0 0 0 2
Institute of Human Genetics, Heidelberg University 0 2 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 1 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 4 0 0 0 0 2 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 7 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 2 0 0 0 2
Arcensus 0 2 0 1 0 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 1 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 1 0 0 0 0 1 1
Cardiology Department, Cho Ray Hospital 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Centre of Medical Genetics, University Hospital Muenster 0 3 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 2 0 0 0 0 1 1
Clinical Genomic Analysis (GENYSIS) Core, University of North Carolina at Chapel Hill 0 0 0 1 0 0 0 1
Dasa 0 1 0 1 0 0 0 1
Department of Human Genetics, Hannover Medical School 0 0 0 1 0 0 0 1
Department of Medical Genomics, Royal Prince Alfred Hospital 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 1 0 0 1
First Hospital of Lanzhou University, Lanzhou University 0 1 0 0 0 0 1 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 0 0 0 1 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 Medical Genetics and Applied Genomics, University Hospital Tübingen 0 4 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 2 0 1 0 0 0 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 0 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 3 0 0 0 0 1 1
OLLIN Analises Genomicas, OLLIN 0 0 0 1 0 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 17 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 0 0 0 1 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 558
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1060+7= rs2738442 0.99995
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98339
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_174936.4(PCSK9):c.-861G>A rs2479409 0.65476
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37645
NM_000527.5(LDLR):c.1060+10G>C rs12710260 0.34072
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33665
NM_000527.5(LDLR):c.190+56G>A rs3745677 0.09858
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701 0.06584
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.04011
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263 0.02744
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu) rs11591147 0.01227
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_000527.5(LDLR):c.1061-8T>C rs72658861 0.00640
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194 0.00578
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.941-39C>T rs55792959 0.00407
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00316
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00261
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_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00088
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963 0.00066
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_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.1056C>T (p.Cys352=) rs13306515 0.00038
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) rs148698650 0.00038
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.1546G>A (p.Gly516Ser) rs141673997 0.00019
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.1491T>C (p.Thr497=) rs145252288 0.00015
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.2101G>A (p.Gly701Ser) rs368838866 0.00012
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.643C>T (p.Arg215Cys) rs764042910 0.00011
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_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser) rs368257906 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00007
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_174936.4(PCSK9):c.207+5G>A rs1272703401 0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) rs564427867 0.00007
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1359-31G>A rs369781605 0.00006
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) rs148181903 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys) rs370471092 0.00005
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00005
NM_000527.5(LDLR):c.1431C>T (p.Asp477=) rs368610522 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00005
NM_000527.5(LDLR):c.660C>T (p.Pro220=) rs143002616 0.00005
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00005
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala) rs755522807 0.00005
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 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.291C>T (p.Asn97=) rs372845091 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 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.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000527.5(LDLR):c.1221C>T (p.His407=) rs778424518 0.00003
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.1474G>C (p.Asp492His) rs373646964 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.1835C>T (p.Ala612Val) rs377449975 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.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.417C>T (p.Asp139=) rs537484504 0.00003
NM_000527.5(LDLR):c.450C>T (p.Pro150=) rs773365925 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.82G>A (p.Glu28Lys) rs551747280 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_000384.3(APOB):c.1595G>A (p.Arg532Gln) rs753831464 0.00002
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.1066G>A (p.Asp356Asn) rs767767730 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.1516G>A (p.Val506Met) rs373848925 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.1784G>A (p.Arg595Gln) rs201102492 0.00002
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551 0.00002
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg) rs150021927 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326 0.00002
NM_000527.5(LDLR):c.324G>C (p.Thr108=) rs146517429 0.00002
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 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_174936.4(PCSK9):c.1119C>T (p.Ser373=) rs139683719 0.00002
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016 0.00001
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316 0.00001
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.-13A>G rs376011618 0.00001
NM_000527.5(LDLR):c.-152C>T rs879254367 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1092C>T (p.Cys364=) rs1555804729 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.1135T>C (p.Cys379Arg) rs879254803 0.00001
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356 0.00001
NM_000527.5(LDLR):c.1187G>A (p.Gly396Asp) rs766474188 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038 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.1241T>G (p.Leu414Arg) rs748554592 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.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 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.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly) rs879254415 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 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.1429G>A (p.Asp477Asn) rs780316072 0.00001
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val) rs1254928151 0.00001
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr) rs879254913 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 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.1943C>T (p.Ser648Phe) rs1555807266 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 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.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 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.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 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.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.351C>T (p.His117=) rs200258458 0.00001
NM_000527.5(LDLR):c.378C>T (p.Phe126=) rs762139262 0.00001
NM_000527.5(LDLR):c.402C>T (p.Cys134=) rs879254515 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.517T>C (p.Cys173Arg) rs879254558 0.00001
NM_000527.5(LDLR):c.531G>A (p.Ser177=) rs555158224 0.00001
NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) rs879254600 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.644G>A (p.Arg215His) rs753319170 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.731C>G (p.Ser244Cys) rs1208667598 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.820del (p.Thr274fs) rs751122998 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.853C>T (p.His285Tyr) rs730882091 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys) rs761767572 0.00001
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129 0.00001
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=) rs986151799 0.00001
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) rs778738291 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000527.4(LDLR):c.-150A>G rs1555800632
NM_000527.4(LDLR):c.-172G>A rs1555800629
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1028G>T (p.Gly343Val) rs879254760
NM_000527.5(LDLR):c.1054T>C (p.Cys352Arg) rs879254769
NM_000527.5(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.5(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val) rs879254777
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.5(LDLR):c.1102T>G (p.Cys368Gly) rs879254791
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
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.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro) rs879254809
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1187-9G>C rs896885804
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.5(LDLR):c.1195G>T (p.Ala399Ser) rs730882099
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1206_1207del (p.Phe403fs) rs879254829
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.5(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.5(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.5(LDLR):c.1297G>T (p.Asp433Tyr) 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.1322T>A (p.Ile441Asn) rs879254862
NM_000527.5(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.5(LDLR):c.1336C>T (p.Leu446=) rs375651668
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
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.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>C (p.Asp47His) rs778284147
NM_000527.5(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.5(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.5(LDLR):c.1433G>A (p.Gly478Glu) rs1555805380
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr) rs879254901
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1448G>T (p.Trp483Leu) rs875989921
NM_000527.5(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
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.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.5(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.5(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1570_1579del (p.Val524fs) rs1555805530
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.5(LDLR):c.1586+1G>A rs755389753
NM_000527.5(LDLR):c.1586+1G>T rs755389753
NM_000527.5(LDLR):c.1586+2T>C rs879254945
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.5(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.5(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.5(LDLR):c.1646G>T (p.Gly549Val) rs28941776
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1705+2T>C rs1555806110
NM_000527.5(LDLR):c.1706-1G>A rs879254996
NM_000527.5(LDLR):c.1706-2A>C rs878854027
NM_000527.5(LDLR):c.1706-2A>T rs878854027
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.172G>T (p.Glu58Ter) rs879254423
NM_000527.5(LDLR):c.1743A>T (p.Lys581Asn) rs1555806428
NM_000527.5(LDLR):c.1754T>A (p.Ile585Asn) rs879255012
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.5(LDLR):c.1820A>G (p.His607Arg) rs879255033
NM_000527.5(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.5(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.5(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.1845+1G>A rs879255049
NM_000527.5(LDLR):c.1845+2T>C rs778408161
NM_000527.5(LDLR):c.1853_1864del (p.Val618_Thr621del) rs879255052
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.1856T>G (p.Phe619Cys) rs879255054
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del) rs879255062
NM_000527.5(LDLR):c.1878del (p.Ala627fs) rs1057516134
NM_000527.5(LDLR):c.188G>T (p.Cys63Phe) rs879254427
NM_000527.5(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1978C>A (p.Gln660Lys) rs193922569
NM_000527.5(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.1A>G (p.Met1Val) rs879254382
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.5(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.5(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.5(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.5(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.5(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.5(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.5(LDLR):c.230del (p.Gly77fs) rs879254440
NM_000527.5(LDLR):c.2311+1G>T rs879255175
NM_000527.5(LDLR):c.2312-3C>A rs875989942
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389+5G>A rs879255191
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.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2446A>C (p.Lys816Gln) rs879255213
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.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.259T>C (p.Trp87Arg) rs121908025
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.5(LDLR):c.269A>C (p.Asp90Ala) rs771019366
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.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.299A>G (p.Asp100Gly) rs879254460
NM_000527.5(LDLR):c.300C>G (p.Asp100Glu) rs766709484
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
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+2dup rs875989897
NM_000527.5(LDLR):c.313+4_313+16del rs1555802822
NM_000527.5(LDLR):c.313+5G>T rs879254467
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.314-3C>T rs879254469
NM_000527.5(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324G>T (p.Thr108=) rs146517429
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.347_349del (p.Cys116_His117delinsTyr) rs879254483
NM_000527.5(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.5(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.5(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.5(LDLR):c.3G>A (p.Met1Ile) rs879254383
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.400T>G (p.Cys134Gly) rs875989900
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.5(LDLR):c.419A>G (p.Glu140Gly) rs879254519
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.5(LDLR):c.431C>T (p.Pro144Leu) rs912448894
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.5(LDLR):c.458T>G (p.Phe153Cys) rs879254533
NM_000527.5(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.5(LDLR):c.467del (p.Asn156fs) rs1057516135
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) rs5931
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.502G>C (p.Asp168His) rs200727689
NM_000527.5(LDLR):c.518G>A (p.Cys173Tyr) rs879254560
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.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.5(LDLR):c.543G>T (p.Pro181=) rs766577671
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.567G>C (p.Val189=) rs753329861
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.663_683dup (p.Asp221_Asp227dup) rs879254620
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.5(LDLR):c.68-5_68-2del rs879254395
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.691T>G (p.Cys231Gly) rs746091400
NM_000527.5(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.5(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.5(LDLR):c.722T>G (p.Phe241Cys) rs748131256
NM_000527.5(LDLR):c.737G>T (p.Gly246Val) rs879254661
NM_000527.5(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.5(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.5(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.5(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.5(LDLR):c.770G>C (p.Arg257Pro) rs757808215
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.5(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.817+1G>A rs879254685
NM_000527.5(LDLR):c.818-3C>G rs886039831
NM_000527.5(LDLR):c.819G>A (p.Val273=) rs1555803817
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.828C>G (p.Cys276Trp) rs146651743
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter) rs551747280
NM_000527.5(LDLR):c.850T>G (p.Cys284Gly) rs879254693
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.880A>G (p.Lys294Glu) rs879254703
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.5(LDLR):c.904T>C (p.Cys302Arg) rs1555803891
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.911A>T (p.Asp304Val) rs1555803898
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.5(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.5(LDLR):c.962del (p.Asn321fs) rs1555804455
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.5(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.