ClinVar Miner

Variants from Laboratory of Genetics and Molecular Cardiology, University of São Paulo with conflicting interpretations

Location: Brazil  Primary collection method: research
Minimum review status of the submission from Laboratory of Genetics and Molecular Cardiology, University of São Paulo: Collection method of the submission from Laboratory of Genetics and Molecular Cardiology, University of São Paulo:
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
76 67 0 104 71 0 90 232

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
Laboratory of Genetics and Molecular Cardiology, University of São Paulo pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 36 9 1 0
likely pathogenic 56 0 26 3 1
uncertain significance 40 33 0 54 45
likely benign 1 1 3 0 6
benign 1 0 3 6 0

Submitter to submitter summary #

Total submitters: 105
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 56 0 31 26 0 20 77
Color Diagnostics, LLC DBA Color Health 0 62 0 20 35 0 16 71
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 42 0 25 9 0 29 63
LDLR-LOVD, British Heart Foundation 0 76 0 22 17 0 21 60
Robarts Research Institute, Western University 0 26 0 22 20 0 4 46
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 36 0 15 9 0 13 37
GENinCode PLC 0 26 0 10 26 0 1 37
Natera, Inc. 0 31 0 13 11 0 10 34
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 26 0 16 2 0 14 32
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 42 0 9 9 0 13 31
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 26 0 14 3 0 14 31
All of Us Research Program, National Institutes of Health 0 29 0 13 1 0 12 26
3billion 0 3 0 16 0 0 5 21
Illumina Laboratory Services, Illumina 0 9 0 8 8 0 4 20
Revvity Omics, Revvity 0 23 0 13 0 0 6 19
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 6 0 11 1 0 5 17
Juno Genomics, Hangzhou Juno Genomics, Inc 0 7 0 10 0 0 6 16
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 15 0 8 1 0 5 14
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 15 0 5 0 0 9 14
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 22 0 10 0 0 3 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 5 0 3 9 0 1 13
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 6 0 0 7 13
OMIM 0 14 0 12 0 0 1 13
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 24 0 7 1 0 4 12
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 1 0 10 0 0 1 11
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 16 0 2 3 0 6 11
Institute of Human Genetics, University of Leipzig Medical Center 0 11 0 9 0 0 2 11
Variantyx, Inc. 0 2 0 7 0 0 3 10
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 4 0 4 4 0 1 9
Cohesion Phenomics 0 12 0 1 7 0 0 8
Fulgent Genetics, Fulgent Genetics 0 16 0 7 0 0 1 8
Fundacion Hipercolesterolemia Familiar 0 67 0 0 0 0 8 8
MGZ Medical Genetics Center 0 2 0 4 0 0 4 8
Mendelics 0 4 0 1 2 0 5 8
Institute for Integrative and Experimental Genomics, University of Luebeck 0 1 0 3 2 0 2 7
Institute of Human Genetics Munich, TUM University Hospital 0 0 0 5 0 0 2 7
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 13 0 4 0 0 3 7
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 5 0 0 0 5
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 1 0 1 1 0 3 5
Baylor Genetics 0 1 0 4 0 0 0 4
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 7 0 2 0 0 2 4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 70 0 0 0 0 4 4
Clinical Genetics Laboratory, Region Ostergotland 0 1 0 4 0 0 0 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 3 0 1 0 0 3 4
Institute of Immunology and Genetics Kaiserslautern 0 0 0 4 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 5 0 4 0 0 0 4
New York Genome Center 0 3 0 1 0 0 3 4
OLLIN Analises Genomicas, OLLIN 0 1 0 3 0 0 1 4
Blueprint Genetics 0 6 0 3 0 0 0 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 2 0 0 1 3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 3 0 0 0 3
Department of Human Genetics, Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 7 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 10 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 2 0 0 1 3
LIPIGEN - Lipid Transport Disorders Italian Genetic Network 0 3 0 1 0 0 2 3
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 4 0 2 0 0 1 3
Molecular Genetics, Royal Melbourne Hospital 0 0 0 2 1 0 0 3
Phosphorus, Inc. 0 2 0 2 0 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 2 0 0 1 3
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 1 0 1 0 0 1 2
CSER _CC_NCGL, University of Washington 0 2 0 0 0 0 2 2
Centre of Medical Genetics, University Hospital Muenster 0 0 0 1 1 0 0 2
Clinical Genetics Laboratory, Skane University Hospital Lund 0 1 0 1 0 0 1 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 1 0 0 2
Genome-Nilou Lab 0 9 0 0 1 0 1 2
Institute of Human Genetics, Heidelberg University 0 2 0 2 0 0 0 2
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 2 0 2 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 3 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 2 0 0 0 2
Medical Laboratory Center, Huzhou Maternal and Child Health Hospital 0 0 0 0 0 0 2 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 2 2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
Arcensus 0 1 0 1 0 0 0 1
Athena Diagnostics 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
CeGaT Center for Human Genetics Tuebingen 0 0 0 1 0 0 0 1
Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 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 1 0 0 1 0 0 1
Department of Molecular Genetics, Istishari Arab Hospital 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 0 0 0 1 0 0 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
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 44 0 0 0 0 1 1
Institute of Human Genetics Greifswald, Research Division, University Medicine Greifswald 0 0 0 1 0 0 0 1
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn 0 2 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 0 0 0 1 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 1 0 0 0 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 0 0 0 1 1
Neuberg Centre For Genomic Medicine, NCGM 0 1 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 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

All variants with conflicting interpretations #

Total variants: 232
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1060+7= rs2738442 0.99995
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_000527.5(LDLR):c.1060+10G>C rs12710260 0.34072
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr) rs11669576 0.08075
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026 0.03579
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450 0.03392
NM_000384.3(APOB):c.5768A>G (p.His1923Arg) rs533617 0.02869
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263 0.02744
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202 0.02673
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761 0.02591
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695 0.02558
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192 0.02253
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699 0.01706
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855 0.01525
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299 0.01522
NM_000527.5(LDLR):c.941-4G>A rs116405216 0.00771
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854 0.00761
NM_000527.5(LDLR):c.2140+5G>A rs72658867 0.00757
NM_000527.5(LDLR):c.940+9C>T rs17242906 0.00749
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844 0.00735
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225 0.00723
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681 0.00709
NM_000527.5(LDLR):c.1586+16G>A rs114891301 0.00699
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023 0.00669
NM_000527.5(LDLR):c.1061-8T>C rs72658861 0.00640
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194 0.00578
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703 0.00562
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423 0.00557
NM_000527.5(LDLR):c.2548-23C>T rs72658870 0.00550
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile) rs45508991 0.00495
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277 0.00409
NM_000527.5(LDLR):c.941-39C>T rs55792959 0.00407
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg) rs28362270 0.00344
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00261
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) rs61742331 0.00256
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288 0.00256
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002 0.00255
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile) rs72654409 0.00234
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077 0.00198
NM_000527.5(LDLR):c.1706-10G>A rs17248882 0.00154
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00109
NM_000527.5(LDLR):c.694+25C>T rs199540175 0.00102
NM_000527.5(LDLR):c.817+9T>C rs375163928 0.00083
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln) rs137853963 0.00066
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092 0.00061
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783 0.00058
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.2548-19G>A rs146008484 0.00043
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys) rs148698650 0.00038
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp) rs143992984 0.00026
NC_000019.10:g.11089461G>A rs879254376 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys) rs139791325 0.00021
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) rs141673997 0.00019
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val) rs113972139 0.00012
NM_000527.5(LDLR):c.185C>T (p.Thr62Met) rs376207800 0.00011
NM_000527.5(LDLR):c.2389+14G>A rs879255192 0.00010
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_174936.4(PCSK9):c.1180G>A (p.Gly394Ser) rs368257906 0.00009
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548 0.00008
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val) rs146200173 0.00007
NM_000527.5(LDLR):c.1358+10G>A rs373060981 0.00007
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg) rs5931 0.00007
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys) rs564427867 0.00007
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile) rs148181903 0.00006
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys) rs370471092 0.00005
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala) rs879255079 0.00005
NM_000527.5(LDLR):c.2389+7G>A rs369551855 0.00005
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala) rs755522807 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 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_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr) rs139434026 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.530C>T (p.Ser177Leu) rs121908026 0.00003
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly) rs373822756 0.00003
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 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.1187-10G>A rs765696008 0.00002
NM_000527.5(LDLR):c.1359-6C>T rs746370607 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.2311G>A (p.Ala771Thr) rs1135402783 0.00002
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr) rs121908039 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys) rs146377316 0.00001
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.-152C>T rs879254367 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.1216C>T (p.Arg406Trp) rs121908043 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.139G>A (p.Asp47Asn) rs778284147 0.00001
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr) rs879254913 0.00001
NM_000527.5(LDLR):c.1586+12C>T rs777953287 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 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.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.67+1G>A rs762417023 0.00001
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter) rs121908035 0.00001
NM_000527.5(LDLR):c.853C>T (p.His285Tyr) rs730882091 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn) rs778738291 0.00001
FH Bologna 2
FH Cape Town 2
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000527.4(LDLR):c.-140C>A rs875989887
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.695-?_817+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.5(LDLR):c.-135C>G rs879254375
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro) rs879254756
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
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.1210A>T (p.Thr404Ser) rs879254834
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro) rs879254920
NM_000527.5(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1570G>A (p.Val524Met) rs730882105
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly) rs879254942
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu) rs879254944
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.5(LDLR):c.1586+1G>A rs755389753
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.5(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.5(LDLR):c.1845+1del rs879255048
NM_000527.5(LDLR):c.1845+2T>C rs778408161
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del) rs879255062
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu) rs1057519680
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg) rs749085746
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser) rs879255118
NM_000527.5(LDLR):c.2068dup (p.His690fs) rs879255130
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.5(LDLR):c.2141-2A>G rs1135402780
NM_000527.5(LDLR):c.2311+1G>T rs879255175
NM_000527.5(LDLR):c.2312-3C>A rs875989942
NM_000527.5(LDLR):c.2389+41C>A rs72658868
NM_000527.5(LDLR):c.2389G>A (p.Val797Met) rs750518671
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>C (p.Cys82Ser) rs879254448
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer) rs879255223
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.5(LDLR):c.313+5G>A rs879254467
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000527.5(LDLR):c.487C>T (p.Gln163Ter) rs1135402768
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.5(LDLR):c.68-2A>G rs879254396
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.81C>G (p.Cys27Trp) rs2228671
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu) rs149311926
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del) rs35574083
c.(1060+1_1061-1)_(1186+1_1187-1)del
c.(1586+1_1587-1)_(1845+1_1846-1)dup
c.(190+1_191-1)_(694+1_695-1)dup
c.(313+1_314-1)_(1186+1_1187-1)dup
c.(?_-187)_(190+1_191-1)del

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