ClinVar Miner

Variants from Robarts Research Institute,Western University with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Robarts Research Institute,Western University: Collection method of the submission from Robarts Research Institute,Western University:
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
75 48 0 174 77 1 66 245

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
Robarts Research Institute,Western University pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 3 1 0 0 0
likely pathogenic 110 0 34 22 11 0
uncertain significance 11 10 0 33 22 1
likely benign 1 0 31 0 44 0
benign 1 0 8 17 0 0

Submitter to submitter summary #

Total submitters: 41
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 41 0 91 23 0 12 126
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 6 0 92 2 0 20 114
Color 0 56 0 61 31 0 13 105
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 8 0 65 0 0 4 69
GeneDx 0 31 0 44 16 0 8 68
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 28 0 27 16 0 10 53
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 2 0 46 1 0 2 49
LDLR-LOVD, British Heart Foundation 0 96 0 24 3 0 21 48
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 24 0 21 17 0 10 48
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 45 0 19 3 0 23 45
Integrated Genetics/Laboratory Corporation of America 0 9 0 32 2 0 9 43
Fundacion Hipercolesterolemia Familiar 0 23 0 26 6 0 8 40
Illumina Clinical Services Laboratory,Illumina 0 33 0 16 13 0 3 31
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 8 0 21 4 0 2 27
OMIM 0 1 0 22 0 1 0 23
Quest Diagnostics Nichols Institute San Juan Capistrano 0 10 0 17 3 0 2 22
Iberoamerican FH Network 0 13 0 14 3 0 3 20
PreventionGenetics 0 10 0 8 5 0 2 15
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 3 0 13 1 0 1 15
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 4 0 12 0 0 3 15
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 27 0 8 0 0 5 13
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 5 0 1 7 0 2 10
Fulgent Genetics 0 0 0 10 0 0 0 10
CSER_CC_NCGL; University of Washington Medical Center 0 5 0 3 0 0 6 9
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 0 1 1 0 6 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 7 0 6 0 0 1 7
Athena Diagnostics Inc 0 1 0 5 0 0 1 6
Blueprint Genetics, 0 1 0 4 1 0 0 5
Institute for Integrative and Experimental Genomics,University of Luebeck 0 7 0 1 2 0 2 5
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 1 0 3 1 0 0 4
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 2 1 0 0 3
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 1 0 0 1 2
GeneReviews 0 1 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology 0 1 0 2 0 0 0 2
Phosphorus, Inc. 0 1 0 0 1 0 1 2
Ambry Genetics 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 0 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Department of Molecular Innovation in Lipidology,National Cerebral & Cardiovascular Center Reseach Institute 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 245
Download table as spreadsheet
HGVS dbSNP
NM_000384.2(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.2(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.2(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.2(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.2(APOB):c.11356C>T (p.Leu3786Phe) rs571485213
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.11808C>T (p.Ile3936=) rs12720852
NM_000384.2(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.2(APOB):c.11904-7C>T rs12720851
NM_000384.2(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.2(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.2(APOB):c.12318A>G (p.Arg4106=) rs375795401
NM_000384.2(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.12794T>C (p.Val4265Ala) rs61743502
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.13160A>T (p.Glu4387Val) rs150412734
NM_000384.2(APOB):c.13302C>T (p.Ser4434=) rs144040999
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.1353-12C>T rs76202659
NM_000384.2(APOB):c.13680T>C (p.Thr4560=) rs72654427
NM_000384.2(APOB):c.1470+15T>C rs185550846
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.2(APOB):c.2068-4T>A rs41291161
NM_000384.2(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.2(APOB):c.2604+15G>C rs72653066
NM_000384.2(APOB):c.2630C>T (p.Pro877Leu) rs12714097
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.3122-6G>A rs72653071
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.2(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.2(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.2(APOB):c.3509-10G>A rs12720770
NM_000384.2(APOB):c.3509-11C>T rs200768300
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.4365C>T (p.Phe1455=) rs12720847
NM_000384.2(APOB):c.4663A>G (p.Ile1555Val) rs141225768
NM_000384.2(APOB):c.4825T>C (p.Leu1609=) rs72653083
NM_000384.2(APOB):c.4929G>A (p.Ala1643=) rs200623857
NM_000384.2(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.2(APOB):c.538-9C>T rs1800478
NM_000384.2(APOB):c.5690G>A (p.Arg1897His) rs199510126
NM_000384.2(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.2(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.2(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.2(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.2(APOB):c.6261C>A (p.Thr2087=) rs61744855
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.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.2(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.2(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.2(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.2(APOB):c.8469T>C (p.Ala2823=) rs531216195
NM_000384.2(APOB):c.8877G>A (p.Leu2959=) rs765899256
NM_000384.2(APOB):c.905-15C>G rs72653061
NM_000384.2(APOB):c.9105T>C (p.Asn3035=) rs147510760
NM_000384.2(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.2(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.2(APOB):c.9639C>A (p.Asn3213Lys) rs574725520
NM_000384.2(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.2(APOB):c.9855C>T (p.Ile3285=) rs72654403
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000384.2(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.100T>G (p.Cys34Gly) rs879254405
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1061A>G (p.Asp354Gly) rs755449669
NM_000527.4(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) rs750649426
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1206_1207delCT (p.Phe403Hisfs) rs879254829
NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
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.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1496_1497del (p.Ser499Cysfs) rs879254922
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.1592T>G (p.Met531Arg) rs779913921
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1686G>A (p.Trp562Ter) rs879254985
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.171_173delTGA (p.Asp57del) rs879254421
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.1887C>T (p.Phe629=) rs751234870
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
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+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2167G>T (p.E723*) rs1057516127
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.2343G>T (p.Glu781Asp) rs761683856
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+1G>T rs879255186
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.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.314-2A>C rs879254470
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.340_344delTTTCG (p.F114Lfs*13) rs1057516132
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.428G>C (p.Cys143Ser) rs879254522
NM_000527.4(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) rs1057516135
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
NM_000527.4(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.4(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.648dupT (p.Asp217Terfs) rs875989903
NM_000527.4(LDLR):c.653delG (p.Gly218Valfs) rs137853966
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.90C>T (p.Asn30=) rs72658855
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1251C>A (p.His417Gln) rs143275858
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1354+9G>T rs72646516
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.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.60_65dupGCTGCT (p.Leu23_Gly24insLeuLeu) rs35574083
NM_174936.3(PCSK9):c.63_65delGCT (p.Leu23del) rs35574083
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.993C>T (p.Pro331=) rs376753957

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