ClinVar Miner

Variants from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge with conflicting interpretations

Location: Portugal — Primary collection method: research
Minimum review status of the submission from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge: Collection method of the submission from Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge:
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
71 91 0 143 72 1 74 241

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
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 60 10 5 0 0
likely pathogenic 40 0 11 4 1 0
uncertain significance 22 28 0 58 31 0
likely benign 1 2 4 0 7 0
benign 3 3 7 36 0 1

Submitter to submitter summary #

Total submitters: 37
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
LDLR-LOVD, British Heart Foundation 0 139 0 58 21 0 28 107
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 70 0 28 12 0 20 60
Color 0 54 0 12 37 0 6 55
Illumina Clinical Services Laboratory,Illumina 0 4 0 32 20 0 2 54
Robarts Research Institute,Western University 0 28 0 27 16 0 10 53
Invitae 0 44 0 16 26 0 10 52
GeneDx 0 43 0 9 29 0 3 41
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 43 0 18 3 0 16 37
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 31 0 17 0 0 9 26
Integrated Genetics/Laboratory Corporation of America 0 19 0 5 8 0 6 19
PreventionGenetics 0 24 0 7 11 0 0 18
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 25 0 11 0 0 7 18
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 25 0 3 6 0 4 13
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 3 9 0 0 12
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 21 0 8 1 0 3 12
OMIM 0 18 0 7 0 1 0 8
Genetic Services Laboratory, University of Chicago 0 3 0 7 1 0 0 8
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 4 0 3 5 0 0 8
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 4 0 4 3 0 1 8
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 5 0 3 0 0 3 6
CSER_CC_NCGL; University of Washington Medical Center 0 9 0 1 1 0 4 6
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 2 2 0 2 6
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 7 0 4 0 0 1 5
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 21 0 0 5 0 0 5
GeneReviews 0 1 0 2 0 0 2 4
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 70 0 0 0 0 4 4
Fulgent Genetics 0 6 0 3 0 0 0 3
Athena Diagnostics Inc 0 4 0 1 1 0 0 2
HudsonAlpha Institute for Biotechnology 0 1 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 1 0 0 2
Fundacion Hipercolesterolemia Familiar 0 47 0 0 0 0 2 2
Ambry Genetics 0 1 0 0 0 0 1 1
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 0 0 1 0 0 1
Blueprint Genetics, 0 3 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Iberoamerican FH Network 0 47 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 241
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
NC_000019.9:g.(11222316_11223953)_(11231199_11233849)dup
NC_000019.9:g.(?_11200038)_(11211022_11213339)del
NM_000384.2(APOB):c.-115C>G rs1800480
NM_000384.2(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.2(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
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.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.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.2(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.2(APOB):c.1280G>A (p.Arg427Gln) rs755407886
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
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.1353-12C>T rs76202659
NM_000384.2(APOB):c.1470+15T>C rs185550846
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.2706C>T (p.Asn902=) rs1801700
NM_000384.2(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.2(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
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.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.2(APOB):c.403A>G (p.Ile135Val) rs769296548
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.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.6639_6641delTGA (p.Asp2213del) rs541497967
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.7853T>C (p.Ile2618Thr) rs531273434
NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.2(APOB):c.905-15C>G rs72653061
NM_000384.2(APOB):c.905-16A>C rs12720810
NM_000384.2(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.*52G>A rs14158
NM_000527.4(LDLR):c.-101T>C rs747068848
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-138T>C rs879254372
NM_000527.4(LDLR):c.-138delT rs387906307
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-140C>T rs875989887
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-208A>T rs879254361
NM_000527.4(LDLR):c.-215A>G rs879254360
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.-36T>G rs879254378
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
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.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+1G>A rs730880131
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1187-2A>G rs879254823
NM_000527.4(LDLR):c.1211C>T (p.Thr404Ile) rs879254835
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.4(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1359-5C>G rs531005522
NM_000527.4(LDLR):c.137G>C (p.Cys46Ser) rs121908041
NM_000527.4(LDLR):c.1383C>T (p.Gly461=) rs764929176
NM_000527.4(LDLR):c.139_144del (p.Asp47_Gly48del) rs387906301
NM_000527.4(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) rs879254892
NM_000527.4(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+2T>A rs879254945
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1705+1G>C rs875989926
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1813C>T (p.Leu605=) rs879255031
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.4(LDLR):c.1845+11C>G rs370245937
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+1del rs879255048
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1876G>A (p.Glu626Lys) rs139791325
NM_000527.4(LDLR):c.1891_2311+1062del (p.(?))
NM_000527.4(LDLR):c.190+2_190+3dup rs879254429
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.1A>C (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2053C>T (p.Pro685Ser) rs2569548
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2140+1G>A rs145787161
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2140+86C>G rs587776886
NM_000527.4(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.4(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.4(LDLR):c.2291T>C (p.Ile764Thr) rs759440817
NM_000527.4(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.4(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.4(LDLR):c.2389+1G>T rs879255186
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.2395_2397del (p.Leu799del) rs879255195
NM_000527.4(LDLR):c.2397_2412del16 (p.Val800Glyfs) rs879255197
NM_000527.4(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.4(LDLR):c.2416dupG (p.Val806Glyfs) rs773618064
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2575G>A (p.Val859Met) rs202049029
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.292G>C (p.Gly98Arg) rs750474121
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+1G>C rs112029328
NM_000527.4(LDLR):c.313+1G>T rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+6T>C rs879254468
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.4(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.4(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
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.589T>C (p.Cys197Arg) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.4(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.661G>T (p.Asp221Tyr) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
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.691T>C (p.Cys231Arg) rs746091400
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.4(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
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.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.940+2T>C rs875989912
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.137G>T (p.Arg46Leu) rs11591147
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772
NM_174936.3(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.1863+6G>A rs568853401
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.3(PCSK9):c.386A>G (p.Asp129Gly) rs1553135971
NM_174936.3(PCSK9):c.524-11G>A rs11800231
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.63_65dupGCT (p.Leu23_Gly24insLeu) rs35574083
NM_174936.3(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
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.799+3A>G rs2495477

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