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 Variants with at least 2 submissions 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 kind of conflict
79 52 0 110 75 1 100 244

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 association
pathogenic 0 32 10 1 1 0
likely pathogenic 54 0 29 4 1 0
uncertain significance 35 34 0 63 42 0
likely benign 1 2 4 0 7 0
benign 3 3 5 17 0 1

Submitter to submitter summary #

Total submitters: 54
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 45 0 39 49 0 27 115
GeneDx 0 35 0 32 25 0 14 71
Color 0 34 0 12 46 0 11 69
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 44 0 25 10 0 31 66
LDLR-LOVD, British Heart Foundation 0 74 0 22 18 0 22 62
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 31 0 23 8 0 18 49
Robarts Research Institute,Western University 0 24 0 21 17 0 10 48
Illumina Clinical Services Laboratory,Illumina 0 4 0 19 17 0 4 40
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 11 0 14 40
Integrated Genetics/Laboratory Corporation of America 0 16 0 16 9 0 8 33
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 26 0 14 1 0 16 31
Ambry Genetics 0 3 0 13 1 0 6 20
OMIM 0 16 0 14 0 1 3 18
PreventionGenetics 0 12 0 6 11 0 0 17
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 3 14 0 0 17
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 6 0 3 11 0 1 15
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 20 0 9 0 0 6 15
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
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 4 0 7 2 0 2 11
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 9 0 0 1 10
Blueprint Genetics, 0 7 0 7 0 0 2 9
CSER_CC_NCGL; University of Washington Medical Center 0 13 0 1 3 0 5 9
Center for Human Genetics,University of Leuven 0 2 0 8 0 0 1 9
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 4 0 4 4 0 1 9
Genetic Services Laboratory, University of Chicago 0 3 0 7 1 0 0 8
Fulgent Genetics 0 8 0 8 0 0 0 8
Fundacion Hipercolesterolemia Familiar 0 66 0 0 0 0 8 8
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 3 2 0 2 7
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 3 2 0 2 7
Biesecker Lab/Human Development Section,National Institutes of Health 0 0 0 2 2 0 1 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 2 0 0 3 5
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 4 0 0 1 5
Athena Diagnostics Inc 0 3 0 2 1 0 1 4
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 5 0 2 0 0 2 4
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 0 0 4 0 0 0 4
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 70 0 0 0 0 4 4
Phosphorus, Inc. 0 2 0 2 1 0 1 4
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 0 0 4 0 0 0 4
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 2 1 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 2 0 0 3 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 14 0 3 0 0 0 3
Gharavi Laboratory,Columbia University 0 1 0 3 0 0 0 3
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 0 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology 0 1 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 1 0 0 0 1
GeneReviews 0 1 0 0 0 0 1 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 1 0 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 0 0 1 1
SIB Swiss Institute of Bioinformatics 0 0 0 0 0 0 1 1
Rampazzo Lab, Human Molecular Genetics Unit,University of Padua 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 44 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 244
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
FH Cape Town 2
NC_000019.9:g.(11211022_11213339)_(11216277_11217240)dup
NC_000019.9:g.(11213463_11215895)_(11222316_11223953)dup
NC_000019.9:g.(11221448_11222189)_(11222316_11223953)del
NC_000019.9:g.(11224439_11226769)_(11227675_11230767)dup
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
NM_000256.3(MYBPC3):c.1358dupC (p.Val454Cysfs) rs727503203
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1513_1515delAAG (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2394dupT (p.Gly799Trpfs) rs730880341
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3624dupC (p.Lys1209Glnfs) rs397516029
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) rs397516080
NM_000257.2(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.2(MYH7):c.3645G>C (p.Gln1215His) rs863225096
NM_000257.3(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.3(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.3(MYH7):c.2156G>C (p.Arg719Pro) rs121913641
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.3(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
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.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000363.4(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
NM_000384.2(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.2(APOB):c.11401T>A (p.Ser3801Thr) rs12713540
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.11761G>A (p.Val3921Ile) rs72654409
NM_000384.2(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.2(APOB):c.1310G>A (p.Arg437His) rs142114415
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.2(APOB):c.13480_13482delCAG (p.Gln4494del) rs562574661
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.2(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000384.2(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.2(APOB):c.2968G>A (p.Ala990Thr) rs139434026
NM_000384.2(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.2(APOB):c.307T>C (p.Tyr103His) rs9282603
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.2(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000384.2(APOB):c.35_43delTGGCGCTGC (p.Leu12_Leu14del) rs17240441
NM_000384.2(APOB):c.35delT (p.Leu12Argfs) rs1060499841
NM_000384.2(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.2(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.2(APOB):c.4663A>G (p.Ile1555Val) rs141225768
NM_000384.2(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000384.2(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.2(APOB):c.6937G>A (p.Val2313Ile) rs584542
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.2(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.-152C>T rs879254367
NM_000527.4(LDLR):c.-88G>A rs879254376
NM_000527.4(LDLR):c.1013G>A (p.Cys338Tyr) rs879254754
NM_000527.4(LDLR):c.1024G>A (p.Asp342Asn) rs139361635
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr) rs1060500986
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_000527.4(LDLR):c.1570G>A (p.Val524Met) rs730882105
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+16G>A rs114891301
NM_000527.4(LDLR):c.1586+1G>A rs755389753
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1637G>A (p.Gly546Asp) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1845+1del rs879255048
NM_000527.4(LDLR):c.1845+2T>C rs778408161
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu) rs1057519680
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2017A>C (p.Ser673Arg) rs749085746
NM_000527.4(LDLR):c.2041T>A (p.Cys681Ser) rs879255118
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2389+14G>A rs879255192
NM_000527.4(LDLR):c.2389+41C>A rs72658868
NM_000527.4(LDLR):c.2389+7G>A rs369551855
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2483A>G (p.Tyr828Cys) rs28942085
NM_000527.4(LDLR):c.2546del (p.Ser849Terfs) rs879255223
NM_000527.4(LDLR):c.2548-19G>A rs146008484
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000527.4(LDLR):c.4G>C (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.68-2A>G rs879254396
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.694+25C>T rs199540175
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.817+9T>C rs375163928
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.940+9C>T rs17242906
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter) rs727504247
NM_001018005.1(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.4(CSRP3):c.536C>T (p.Thr179Met) rs142019584
NM_003673.3(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_033071.3(SYNE1):c.12149_12150delAGinsGT (p.Lys4050Ser) rs386707192
NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser) rs368257906
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg) rs28362270
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_174936.3(PCSK9):c.1979A>C (p.Asp660Ala) rs755522807
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
NM_174936.3(PCSK9):c.63_65delGCT (p.Leu23del) rs35574083
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867

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