ClinVar Miner

Variants from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum with conflicting interpretations

Location: Netherlands — Primary collection method: research
Minimum review status of the submission from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum: Collection method of the submission from Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum:
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
197 87 0 410 37 2 182 496

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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum pathogenic likely pathogenic uncertain significance likely benign benign association
pathogenic 0 348 130 60 17 2
uncertain significance 0 0 0 1 1 0
benign 7 16 36 62 0 0

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 0 110 0 303 4 0 66 373
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 52 0 85 3 0 37 125
Robarts Research Institute,Western University 0 6 0 92 2 0 20 114
Fundacion Hipercolesterolemia Familiar 0 47 0 39 7 0 34 80
Color 0 61 0 40 2 0 35 77
Invitae 0 93 0 30 3 0 35 68
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 44 0 25 10 0 31 66
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 70 0 28 12 0 20 60
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 18 0 52 2 0 5 59
Iberoamerican FH Network 0 24 0 20 4 0 19 43
Integrated Genetics/Laboratory Corporation of America 0 51 0 13 6 0 22 41
Illumina Clinical Services Laboratory,Illumina 0 5 0 24 2 0 8 33
CSER_CC_NCGL; University of Washington Medical Center 0 3 0 8 2 0 20 30
GeneDx 0 56 0 14 1 0 13 28
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 28 0 9 3 0 11 23
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 11 6 0 6 23
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 119 0 13 0 0 9 22
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 7 0 16 0 0 0 16
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 7 0 0 5 12
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 3 1 0 2 6
PreventionGenetics 0 21 0 4 0 0 2 6
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 26 0 5 0 0 1 6
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 74 0 0 2 0 3 5
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 20 0 3 0 0 2 5
Athena Diagnostics Inc 0 7 0 3 0 0 1 4
Genetic Services Laboratory, University of Chicago 0 0 0 3 0 0 0 3
Quest Diagnostics Nichols Institute San Juan Capistrano 0 9 0 1 0 0 2 3
OMIM 0 33 0 0 0 2 0 2
Ambry Genetics 0 0 0 1 0 0 1 2
Blueprint Genetics, 0 3 0 2 0 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 2 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 0 0 1 0 0 0 1
Fulgent Genetics 0 11 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 2 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
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 496
Download table as spreadsheet
HGVS dbSNP
NM_000384.2(APOB):c.10182G>T (p.Lys3394Asn) rs1382988295
NM_000384.2(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
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.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.2(APOB):c.10700C>T (p.Thr3567Met) rs368278927
NM_000384.2(APOB):c.10708C>T (p.His3570Tyr) rs201736972
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.11854C>T (p.Arg3952Cys) rs535121944
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.2(APOB):c.13028_13029delAT (p.Tyr4343Cysfs) rs760832994
NM_000384.2(APOB):c.13154G>A (p.Arg4385His) rs533755016
NM_000384.2(APOB):c.13160A>T (p.Glu4387Val) rs150412734
NM_000384.2(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.2(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.2(APOB):c.9175C>T (p.Arg3059Cys) rs146377316
NM_000527.4(LDLR):c.-120C>T rs875989886
NM_000527.4(LDLR):c.-13A>G rs376011618
NM_000527.4(LDLR):c.-152C>T rs879254367
NM_000527.4(LDLR):c.-187_-185del rs1270618112
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
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.1054T>C (p.Cys352Arg) rs879254769
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1056C>T (p.Cys352=) rs13306515
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+40G>A rs192390193
NM_000527.4(LDLR):c.1060+7T>C rs2738442
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.1063A>G (p.Ile355Val) rs879254776
NM_000527.4(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.4(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.4(LDLR):c.1102T>G (p.Cys368Gly) rs879254791
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1130G>A (p.Cys377Tyr) rs879254801
NM_000527.4(LDLR):c.1135T>C (p.Cys379Arg) rs879254803
NM_000527.4(LDLR):c.1136G>A (p.Cys379Tyr) rs879254804
NM_000527.4(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.4(LDLR):c.1151A>C (p.Gln384Pro) rs879254807
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.4(LDLR):c.1195G>A (p.Ala399Thr) rs730882099
NM_000527.4(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.4(LDLR):c.1199_1207delACCTCTTCT (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.4(LDLR):c.1206_1207delCT (p.Phe403Hisfs) rs879254829
NM_000527.4(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.1217G>C (p.Arg406Pro) rs552422789
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.4(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.4(LDLR):c.1241T>G (p.Leu414Arg) rs748554592
NM_000527.4(LDLR):c.1243G>C (p.Asp415His) rs879254844
NM_000527.4(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.4(LDLR):c.1247G>C (p.Arg416Pro) rs773658037
NM_000527.4(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.4(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.4(LDLR):c.1265T>C (p.Leu422Pro) rs879254848
NM_000527.4(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.4(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
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.1294C>G (p.Leu432Val) rs730882100
NM_000527.4(LDLR):c.1295T>C (p.Leu432Pro) rs879254855
NM_000527.4(LDLR):c.1297G>C (p.Asp433His) rs121908036
NM_000527.4(LDLR):c.1297G>T (p.Asp433Tyr) rs121908036
NM_000527.4(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.4(LDLR):c.1325A>G (p.Tyr442Cys) rs879254864
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1330T>C (p.Ser444Pro) rs875989919
NM_000527.4(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1358+1G>A rs775924858
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1359-31_1359-23delinsCGGCT rs879254876
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.136T>G (p.Cys46Gly) rs879254415
NM_000527.4(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.1413A>G (p.Arg471=) rs5930
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.4(LDLR):c.1426C>T (p.Pro476Ser) rs879254898
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.4(LDLR):c.1449G>C (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1466A>G (p.Tyr489Cys) rs879254914
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1478_1479delCT (p.Ser493Cysfs) rs869025453
NM_000527.4(LDLR):c.1486_1487delGG (p.Gly496Hisfs) rs869025454
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1502C>T (p.Ala501Val) rs755667663
NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1520A>C (p.Lys507Thr) rs879254929
NM_000527.4(LDLR):c.1525A>G (p.Lys509Glu) rs879254931
NM_000527.4(LDLR):c.1546G>A (p.Gly516Ser) rs141673997
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.4(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.4(LDLR):c.1586+1G>A rs755389753
NM_000527.4(LDLR):c.1586+1G>T rs755389753
NM_000527.4(LDLR):c.1586+2T>C rs879254945
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.4(LDLR):c.1601C>A (p.Thr534Asn) rs879254954
NM_000527.4(LDLR):c.1603G>T (p.Asp535Tyr) rs879254955
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.1618G>T (p.Ala540Ser) rs769370816
NM_000527.4(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.4(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
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.1646G>T (p.Gly549Val) rs28941776
NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974
NM_000527.4(LDLR):c.1658_1660delACT (p.Tyr553del) rs1555806019
NM_000527.4(LDLR):c.165C>G (p.Gly55=) rs150644181
NM_000527.4(LDLR):c.1684_1686dup (p.Trp562_Pro563insTrp) rs879254983
NM_000527.4(LDLR):c.1688C>A (p.Pro563His) rs879254987
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.1691A>G (p.Asn564Ser) rs758194385
NM_000527.4(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.4(LDLR):c.169G>A (p.Asp57Asn) rs879254420
NM_000527.4(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.4(LDLR):c.1703T>C (p.Leu568Pro) rs879254991
NM_000527.4(LDLR):c.1705+1G>T rs875989926
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-1G>A rs879254996
NM_000527.4(LDLR):c.1706-2A>C rs878854027
NM_000527.4(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
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.1730G>C (p.Trp577Ser) rs138947766
NM_000527.4(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.4(LDLR):c.1754T>A (p.Ile585Asn) rs879255012
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
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.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1784G>T (p.Arg595Leu) rs201102492
NM_000527.4(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
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.1820A>G (p.His607Arg) rs879255033
NM_000527.4(LDLR):c.1823C>T (p.Pro608Leu) rs879255035
NM_000527.4(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.4(LDLR):c.1829C>G (p.Ser610Cys) rs879255038
NM_000527.4(LDLR):c.1833G>C (p.Leu611Phe) rs879255041
NM_000527.4(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1837G>A (p.Val613Ile) rs148181903
NM_000527.4(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1845+1G>A rs879255049
NM_000527.4(LDLR):c.1845+2T>C rs778408161
NM_000527.4(LDLR):c.1853_1864del (p.Val618_Thr621del) rs879255052
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.4(LDLR):c.1856T>G (p.Phe619Cys) rs879255054
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
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.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1878delA (p.E626Efs*38) rs1057516134
NM_000527.4(LDLR):c.1892C>A (p.Ala631Asp) rs879255070
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.1898G>T (p.Arg633Leu) rs754536745
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.190+56G>A rs3745677
NM_000527.4(LDLR):c.190+5G>A rs1131692190
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1954A>G (p.Met652Val) rs730882111
NM_000527.4(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.1976C>A (p.Thr659Asn) rs879255094
NM_000527.4(LDLR):c.1978C>A (p.Gln660Lys) rs193922569
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.1A>G (p.Met1Val) rs879254382
NM_000527.4(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.4(LDLR):c.2033_2044del (p.Gln678_Cys681del) rs879255115
NM_000527.4(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.4(LDLR):c.2053C>A (p.Pro685Thr) rs2569548
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.4(LDLR):c.2093G>T (p.Cys698Phe) rs879255136
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) rs766903209
NM_000527.4(LDLR):c.2131T>A (p.Cys711Ser) rs879255144
NM_000527.4(LDLR):c.2132G>A (p.Cys711Tyr) rs879255145
NM_000527.4(LDLR):c.2132G>T (p.Cys711Phe) rs879255145
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2232A>G (p.Arg744=) rs5927
NM_000527.4(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.4(LDLR):c.224G>A (p.Cys75Tyr) rs875989890
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.4(LDLR):c.230delG (p.Gly77Alafs) rs879254440
NM_000527.4(LDLR):c.2311+1G>T rs879255175
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389+5G>A rs879255191
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.2390-1G>C rs879255193
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.2407_2424dup (p.Leu808_Leu809insCysLeuGlyValPheLeu) rs879255201
NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) rs879255203
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.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.2475C>A (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.4(LDLR):c.2476C>A (p.Pro826Thr) rs879255217
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.2506G>A (p.Val836Ile) rs879255220
NM_000527.4(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.4(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.4(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.4(LDLR):c.259T>G (p.Trp87Gly) rs121908025
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.269A>G (p.Asp90Gly) rs771019366
NM_000527.4(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.283T>C (p.Cys95Arg) rs879254456
NM_000527.4(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.292G>A (p.Gly98Ser) rs750474121
NM_000527.4(LDLR):c.299A>G (p.Asp100Gly) rs879254460
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.4(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.313+5G>T rs879254467
NM_000527.4(LDLR):c.314-1G>A rs879254471
NM_000527.4(LDLR):c.314-3C>T rs879254469
NM_000527.4(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.4(LDLR):c.325T>C (p.Cys109Arg) rs140807148
NM_000527.4(LDLR):c.326G>A (p.Cys109Tyr) rs121908042
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
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.343C>T (p.Arg115Cys) rs774723292
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.347_349del (p.Cys116_His117delinsTyr) rs879254483
NM_000527.4(LDLR):c.351C>T (p.His117=) rs200258458
NM_000527.4(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.4(LDLR):c.382T>C (p.Cys128Arg) rs879254505
NM_000527.4(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.409G>A (p.Gly137Ser) rs730882082
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.419A>G (p.Glu140Gly) rs879254519
NM_000527.4(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.4(LDLR):c.434T>C (p.Val145Ala) rs776872913
NM_000527.4(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.4(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.458T>G (p.Phe153Cys) rs879254533
NM_000527.4(LDLR):c.463T>C (p.Cys155Arg) rs879254535
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.464G>T (p.Cys155Phe) rs879254536
NM_000527.4(LDLR):c.467delA (p.N156Tfs*49) rs1057516135
NM_000527.4(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.499T>C (p.Cys167Arg) rs879254547
NM_000527.4(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.4(LDLR):c.502G>C (p.Asp168His) rs200727689
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.508G>A (p.Asp170Asn) rs139089530
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.518G>A (p.Cys173Tyr) rs879254560
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.531G>A (p.Ser177=) rs555158224
NM_000527.4(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.4(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.4(LDLR):c.550T>C (p.Cys184Arg) rs879254572
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>G (p.Cys197Gly) rs730882085
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.4(LDLR):c.611G>C (p.Cys204Ser) rs879254592
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.622G>A (p.Glu208Lys) rs879254597
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.626G>A (p.Cys209Tyr) rs879254600
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.660C>T (p.Pro220=) rs143002616
NM_000527.4(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.663_683dup21 (p.Asp227_Glu228insAspCysLysAspLysSerAsp) rs879254620
NM_000527.4(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.4(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.4(LDLR):c.671A>T (p.Asp224Val) rs879254630
NM_000527.4(LDLR):c.68-5_68-2del rs879254395
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>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.691T>G (p.Cys231Gly) rs746091400
NM_000527.4(LDLR):c.692G>A (p.Cys231Tyr) rs879254644
NM_000527.4(LDLR):c.706T>C (p.Cys236Arg) rs879254655
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.4(LDLR):c.742T>G (p.Cys248Gly) rs879254662
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.4(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.4(LDLR):c.763T>A (p.Cys255Ser) rs879254668
NM_000527.4(LDLR):c.763T>C (p.Cys255Arg) rs879254668
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.796G>A (p.Asp266Asn) rs875989907
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.801A>T (p.Glu267Asp) rs879254681
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.808T>A (p.Cys270Ser) rs879254682
NM_000527.4(LDLR):c.808T>C (p.Cys270Arg) rs879254682
NM_000527.4(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.4(LDLR):c.817+1G>A rs879254685
NM_000527.4(LDLR):c.818-3C>G rs886039831
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.820delA (p.T274Hfs*95) rs751122998
NM_000527.4(LDLR):c.826T>G (p.Cys276Gly) rs879254692
NM_000527.4(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.828C>T (p.Cys276=) rs146651743
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.850T>G (p.Cys284Gly) rs879254693
NM_000527.4(LDLR):c.853C>T (p.His285Tyr) rs730882091
NM_000527.4(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.859G>A (p.Gly287Ser) rs375495026
NM_000527.4(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.880A>G (p.Lys294Glu) rs879254703
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.902A>G (p.Asp301Gly) rs879254714
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
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.910G>C (p.Asp304His) rs121908030
NM_000527.4(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.4(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.922G>A (p.Glu308Lys) rs879254721
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.938G>A (p.Cys313Tyr) rs875989911
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-2A>G rs112366278
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.949G>A (p.Glu317Lys) rs746834464
NM_000527.4(LDLR):c.95T>G (p.Phe32Cys) rs879254403
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.4(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.4(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_174936.3(PCSK9):c.-861G>A rs2479409
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.1180G>A (p.Gly394Ser) rs368257906
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
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.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
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.142G>A (p.Glu48Lys) rs1278890129
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.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.2037C>A (p.Cys679Ter) rs28362286
NM_174936.3(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.3(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
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.658G>A (p.Ala220Thr) rs768795323
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867

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