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:
ClinVar version:

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
95 68 0 94 65 0 86 212

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 33 9 1 0
likely pathogenic 48 0 23 4 1
uncertain significance 38 27 0 53 31
likely benign 1 1 3 0 6
benign 1 0 3 7 0

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
Color Diagnostics, LLC DBA Color Health 0 52 0 16 37 0 15 68
Invitae 0 53 0 27 23 0 15 65
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 42 0 25 9 0 29 63
LDLR-LOVD, British Heart Foundation 0 75 0 22 18 0 21 61
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
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 26 0 14 3 0 14 31
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 24 0 11 2 0 8 21
Revvity Omics, Revvity 0 19 0 14 0 0 6 20
Natera, Inc. 0 21 0 5 11 0 4 20
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 29 0 7 6 0 7 20
Illumina Laboratory Services, Illumina 0 9 0 7 9 0 3 19
Brunham Lab, Centre for Heart and Lung Innovation, University of British Columbia 0 15 0 8 1 0 5 14
OMIM 0 14 0 12 0 0 1 13
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 5 0 3 9 0 1 13
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 22 0 10 0 0 3 13
Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation 0 24 0 7 1 0 4 12
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 5 0 0 6 11
3billion 0 5 0 9 0 0 2 11
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 9 0 9 0 0 1 10
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 4 0 4 4 0 1 9
MGZ Medical Genetics Center 0 2 0 4 0 0 4 8
Mendelics 0 2 0 1 2 0 5 8
Fulgent Genetics, Fulgent Genetics 0 16 0 7 0 0 1 8
Fundacion Hipercolesterolemia Familiar 0 67 0 0 0 0 8 8
Cohesion Phenomics 0 12 0 1 7 0 0 8
Institute for Integrative and Experimental Genomics, University of Luebeck 0 1 0 3 2 0 2 7
Laboratory of molecular diagnosis of dyslipidemias, Università egli studi di Napoli Federico II 0 13 0 4 0 0 3 7
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München 0 0 0 4 0 0 2 6
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 0 0 5 0 0 0 5
Institute of Human Genetics, University of Leipzig Medical Center 0 8 0 4 0 0 1 5
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 6 0 2 0 0 3 5
Baylor Genetics 0 1 0 4 0 0 0 4
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 0 0 3 0 0 1 4
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 70 0 0 0 0 4 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 0 1 0 0 2 3
Blueprint Genetics 0 6 0 3 0 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 2 0 2 0 0 1 3
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 1 0 2 0 0 1 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 2 0 0 1 3
Phosphorus, Inc. 0 2 0 2 0 0 1 3
Clinical Genetics Laboratory, Region Ostergotland 0 0 0 3 0 0 0 3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 10 0 3 0 0 0 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
New York Genome Center 0 3 0 1 0 0 2 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1 0 1 1 0 0 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 0 0 0 2 2
CSER _CC_NCGL, University of Washington 0 2 0 0 0 0 2 2
Genetics and Molecular Pathology, SA Pathology 0 0 0 2 0 0 0 2
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 1 0 0 0 0 2 2
Genome-Nilou Lab 0 9 0 0 1 0 1 2
Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine 0 5 0 2 0 0 0 2
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 2 0 0 0 2
Athena Diagnostics Inc 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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 0 0 1 0 0 0 1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 0 0 1 0 0 0 1
GeneDx 0 0 0 1 0 0 0 1
Ambry Genetics 0 0 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 0 1 0 0 0 1
Laboratory of Human Genetics, Universidade de São Paulo 0 0 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Iberoamerican FH Network 0 44 0 0 0 0 1 1
Department of Traditional Chinese Medicine, Fujian Provincial Hospital 0 0 0 0 0 0 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 1 0 0 0 1
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 1 0 0 0 1
UCSF Pediatric Lipid Clinic, University of California, San Francisco 0 0 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 0 0 1 0 0 0 1
Institute of Human Genetics, University Hospital Muenster 0 0 0 0 1 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
Suma Genomics 0 0 0 1 0 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 0 0 0 0 0 1 1
DASA 0 1 0 0 0 0 1 1
National Institute of Allergy and Infectious Diseases - Centralized Sequencing Program, National Institutes of Health 0 2 0 0 0 0 1 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 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
Arcensus 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 212
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 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_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_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) 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.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
FH Bologna 2
FH Cape Town 2
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) 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.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_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.-88G>A
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
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.313+1G>A
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.5(LDLR):c.1013G>A (p.Cys338Tyr)
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1176C>A (p.Cys392Ter)
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1358+10G>A
NM_000527.5(LDLR):c.1359-6C>T
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1586+16G>A
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1845+1del
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1868TCA[1] (p.Ile624del)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+41C>A
NM_000527.5(LDLR):c.2389+7G>A
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2483A>G (p.Tyr828Cys)
NM_000527.5(LDLR):c.2546del (p.Pro848_Ser849insTer)
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.67+1G>A
NM_000527.5(LDLR):c.68-2A>G
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.853C>T (p.His285Tyr)
NM_000527.5(LDLR):c.902A>G (p.Asp301Gly)
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
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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