ClinVar Miner

Variants from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix with conflicting interpretations

Location: France — Primary collection method: clinical testing
Minimum review status of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix: Collection method of the submission from Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix:
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
56 113 0 188 38 0 105 266

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
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 45 6 0 1
likely pathogenic 130 0 51 11 1
uncertain significance 19 15 0 8 5
likely benign 18 14 18 0 3
benign 3 3 10 10 0

Submitter to submitter summary #

Total submitters: 38
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
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 51 0 84 3 0 33 120
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 76 0 84 0 0 22 106
LDLR-LOVD, British Heart Foundation 0 229 0 47 4 0 53 104
Invitae 0 63 0 56 10 0 30 96
Color 0 36 0 33 9 0 24 66
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 20 0 34 2 0 9 45
Fundacion Hipercolesterolemia Familiar 0 56 0 21 3 0 20 44
Integrated Genetics/Laboratory Corporation of America 0 13 0 31 2 0 7 40
Robarts Research Institute,Western University 0 48 0 21 2 0 15 38
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 36 0 15 9 0 13 37
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 40 0 17 3 0 16 36
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 22 0 22 1 0 11 34
Iberoamerican FH Network 0 30 0 10 2 0 11 23
Broad Institute Rare Disease Group,Broad Institute 0 10 0 7 3 0 12 22
Illumina Clinical Services Laboratory,Illumina 0 6 0 9 6 0 2 17
OMIM 0 12 0 15 0 0 1 16
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 45 0 3 3 0 6 12
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 3 1 0 6 10
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 7 0 7 1 0 1 9
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 6 0 6 1 0 2 9
Fulgent Genetics,Fulgent Genetics 0 3 0 8 0 0 0 8
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 2 0 6 1 0 1 8
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 8 0 1 0 0 6 7
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 6 0 6 0 0 1 7
Institute for Integrative and Experimental Genomics,University of Luebeck 0 2 0 3 0 0 2 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 3 0 0 1 4
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 1 0 1 1 0 0 2
Blueprint Genetics 0 3 0 1 0 0 1 2
Mendelics 0 2 0 0 1 0 0 1
GeneReviews 0 1 0 0 0 0 1 1
SNPedia 0 0 0 1 0 0 0 1
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 1 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Phosphorus, Inc. 0 0 0 0 1 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 0 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 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 266
Download table as spreadsheet
HGVS dbSNP
NM_000527.4(LDLR):c.*13A>G rs72658871
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.1045del (p.Gln349fs) rs879254765
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1358+7G>A rs369709333
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.4(LDLR):c.1978C>T (p.Gln660Ter) rs193922569
NM_000527.4(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.211G>A (p.Gly71Arg) rs766903209
NM_000527.4(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.4(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127
NM_000527.4(LDLR):c.2206G>A (p.Val736Ile) rs547268730
NM_000527.4(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.377T>C (p.Phe126Ser) rs879254502
NM_000527.4(LDLR):c.383G>A (p.Cys128Tyr) rs879254506
NM_000527.4(LDLR):c.68-1G>A rs879254397
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.683A>G (p.Glu228Gly) rs879254642
NM_000527.4(LDLR):c.694+2T>C rs200238879
NM_000527.4(LDLR):c.710G>A (p.Arg237His) rs148171426
NM_000527.4(LDLR):c.865del (p.Cys289fs) rs879254696
NM_000527.4(LDLR):c.985T>C (p.Cys329Arg) rs879254749
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) rs879254758
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1056C>A (p.Cys352Ter) rs13306515
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1061-1G>A rs879254774
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1103G>C (p.Cys368Ser) rs768430352
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
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.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1268T>C (p.Ile423Thr) rs879254849
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1358+1G>A rs775924858
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1359-1G>A rs139617694
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.5(LDLR):c.1463T>A (p.Ile488Asn) rs879254913
NM_000527.5(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1586+1G>A
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1587-2A>T rs879254947
NM_000527.5(LDLR):c.1597T>C (p.Trp533Arg) rs879254951
NM_000527.5(LDLR):c.1598G>A (p.Trp533Ter) rs746939188
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1633G>A (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1637G>A (p.Gly546Asp)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1694G>C (p.Gly565Ala) rs28942082
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1698_1704delinsGCCCAAT (p.Ile566_Leu568delinsMetProAsn) rs879254989
NM_000527.5(LDLR):c.1705+1G>T rs875989926
NM_000527.5(LDLR):c.1705+2_1705+3insC rs879254994
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
NM_000527.5(LDLR):c.1729T>G (p.Trp577Gly) rs879255000
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766
NM_000527.5(LDLR):c.1735G>T (p.Asp579Tyr) rs875989929
NM_000527.5(LDLR):c.1745T>C (p.Leu582Pro) rs875989930
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1814T>C (p.Leu605Pro) rs875989932
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1845+2T>C
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.1856T>C (p.Phe619Ser) rs879255054
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.187T>C (p.Cys63Arg) rs879254426
NM_000527.5(LDLR):c.191-1G>A rs879254433
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2037T>A (p.Tyr679Ter) rs760436036
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2140+1G>A rs145787161
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2140G>T (p.Glu714Ter) rs869320652
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2311+1G>T
NM_000527.5(LDLR):c.2311+2T>G rs879255176
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2390-1G>C rs879255193
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.2476C>A (p.Pro826Thr) rs879255217
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.2548-12A>G rs771336748
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.28T>C (p.Trp10Arg)
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.311G>A (p.Cys104Tyr) rs875989895
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+1G>T rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.324_325delinsTC (p.Cys109Arg) rs879254476
NM_000527.5(LDLR):c.326G>T (p.Cys109Phe) rs121908042
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.361T>C (p.Cys121Arg) rs879254492
NM_000527.5(LDLR):c.416A>G (p.Asp139Gly) rs879254518
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.428G>A (p.Cys143Tyr) rs879254522
NM_000527.5(LDLR):c.443G>A (p.Cys148Tyr) rs879254526
NM_000527.5(LDLR):c.443G>C (p.Cys148Ser) rs879254526
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.460C>T (p.Gln154Ter) rs879254534
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.5(LDLR):c.464G>A (p.Cys155Tyr) rs879254536
NM_000527.5(LDLR):c.478T>C (p.Cys160Arg) rs879254540
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.501C>G (p.Cys167Trp) rs752596535
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.5(LDLR):c.514G>A (p.Asp172Asn) rs879254554
NM_000527.5(LDLR):c.519C>A (p.Cys173Ter) rs769318035
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.539G>A (p.Trp180Ter) rs879254569
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.550T>C (p.Cys184Arg) rs879254572
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.564C>G (p.Tyr188Ter) rs121908034
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.67+2T>A rs879254394
NM_000527.5(LDLR):c.670G>A (p.Asp224Asn) rs387906303
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.796G>A (p.Asp266Asn) rs875989907
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682
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.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.910G>T (p.Asp304Tyr) rs121908030
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+1G>C rs879254729
NM_000527.5(LDLR):c.940+2T>A rs875989912
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-2A>G rs112366278
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.5(LDLR):c.985T>G (p.Cys329Gly) rs879254749
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr) rs761954844
NM_001195798.2(LDLR):c.1204_1206TTC[1] (p.Phe403del) rs879254830
NM_001195798.2(LDLR):c.1476_1477CT[1] (p.Ser493fs) rs869025453
NM_001195798.2(LDLR):c.1494_1495CT[1] (p.Ser499fs) rs879254922
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)
NM_001195798.2(LDLR):c.313+1dup rs879254466
NM_001195798.2(LDLR):c.961_963AAC[1] (p.Asn322del)
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.3(PCSK9):c.1773C>G (p.His591Gln) rs529912877
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.3(PCSK9):c.616G>A (p.Glu206Lys) rs753857795
NM_174936.3(PCSK9):c.709C>T (p.Arg237Trp) rs148195424
NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) rs72646509
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772

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