ClinVar Miner

Variants with conflicting interpretations studied for Familial hypercholesterolemia

Coded as:
Minimum review status of the submission for Familial hypercholesterolemia: Y axis collection method of the submission for Familial hypercholesterolemia:
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
412 191 0 282 181 6 111 432

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 conditions
Familial hypercholesterolemia pathogenic likely pathogenic uncertain significance likely benign benign association drug response
pathogenic 0 94 23 7 1 0 0
likely pathogenic 47 0 19 4 0 0 0
uncertain significance 32 32 0 41 8 0 0
likely benign 9 8 86 0 77 0 0
benign 8 3 50 80 0 1 5

Condition to condition summary #

Total conditions: 19
Download table as spreadsheet
Condition 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
Familial hypercholesterolemia 1 0 98 0 211 145 0 98 349
not provided 0 211 0 109 51 0 4 157
Familial hypobetalipoproteinemia 0 14 0 33 32 0 2 67
not specified 0 66 0 43 16 0 2 58
Familial hypercholesterolemia 968 46 0 16 1 0 4 21
Hypercholesterolaemia 0 9 0 4 7 0 7 18
Familial hypercholesterolemia - homozygous 0 31 0 14 0 0 0 14
Familial hypercholesterolemia 3 0 18 0 4 4 0 1 9
Hypobetalipoproteinemia, familial, 1 0 1 0 1 2 0 5 8
Familial hypercholesterolemia 2 0 2 0 0 3 0 2 5
Familial hypercholesterolemia 2; Hypobetalipoproteinemia, familial, 1 0 37 0 0 5 0 0 5
Warfarin response 0 0 0 0 0 5 0 5
Inborn genetic diseases 0 0 0 1 0 0 1 2
Aortic dissection; Carotid artery dissection; Internal carotid artery dissection; Carotid artery occlusion; Stroke 0 0 0 1 0 0 0 1
Familial dilated cardiomyopathy 0 0 0 1 0 0 0 1
Hypercholesterolemia 0 1 0 0 1 0 0 1
Hypobetalipoproteinemia 0 0 0 1 0 0 0 1
Hypocholesterolemia 0 0 0 0 0 0 1 1
Low density lipoprotein cholesterol level quantitative trait locus 1 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 432
Download table as spreadsheet
HGVS dbSNP
NM_000384.3(APOB):c.*11G>T rs72654428
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly) rs61742331
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.3(APOB):c.10385A>G (p.Tyr3462Cys) rs200305144
NM_000384.3(APOB):c.10520G>C (p.Arg3507Pro) rs201156840
NM_000384.3(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys) rs12713559
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972
NM_000384.3(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg) rs61744288
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.3(APOB):c.11181T>C (p.Ala3727=) rs145894110
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.3(APOB):c.11319G>A (p.Lys3773=) rs780811733
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe) rs571485213
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr) rs12713540
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.11568C>T (p.Ile3856=) rs542175556
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile) rs72654409
NM_000384.3(APOB):c.11789-8C>T rs201274370
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.3(APOB):c.11819C>T (p.Thr3940Met) rs72654416
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11854C>T (p.Arg3952Cys) rs535121944
NM_000384.3(APOB):c.11904-15T>A rs370325726
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.3(APOB):c.1199G>A (p.Arg400His) rs530171166
NM_000384.3(APOB):c.12016G>A (p.Val4006Ile) rs183117027
NM_000384.3(APOB):c.12088-13del rs751121092
NM_000384.3(APOB):c.12088-14T>C rs182329513
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751
NM_000384.3(APOB):c.12310C>A (p.Leu4104Met) rs199668351
NM_000384.3(APOB):c.12318A>G (p.Arg4106=) rs375795401
NM_000384.3(APOB):c.12382G>A (p.Val4128Met) rs1801703
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr) rs570782024
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.3(APOB):c.12699G>A (p.Ser4233=) rs56675344
NM_000384.3(APOB):c.12724C>A (p.Leu4242Met) rs748569334
NM_000384.3(APOB):c.12766G>A (p.Glu4256Lys) rs61743313
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502
NM_000384.3(APOB):c.12803T>C (p.Met4268Thr) rs72654422
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.1280G>A (p.Arg427Gln) rs755407886
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val) rs72654423
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.3(APOB):c.13026_13027AT[1] (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.13095C>T (p.Asn4365=) rs13306203
NM_000384.3(APOB):c.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.3(APOB):c.1310G>A (p.Arg437His) rs142114415
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.3(APOB):c.13449G>A (p.Ala4483=) rs138421941
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.13680T>C (p.Thr4560=) rs72654427
NM_000384.3(APOB):c.1470+15T>C rs185550846
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
NM_000384.3(APOB):c.1648G>C (p.Asp550His) rs145862664
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu) rs12714214
NM_000384.3(APOB):c.1785C>G (p.Ser595=) rs139864087
NM_000384.3(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.3(APOB):c.2068-4T>A rs41291161
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.3(APOB):c.2244+3G>A rs12714189
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu) rs148502464
NM_000384.3(APOB):c.2310C>T (p.Val770=) rs72653064
NM_000384.3(APOB):c.2585T>C (p.Val862Ala) rs145142090
NM_000384.3(APOB):c.2604+1G>A rs775345377
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.2817-19T>G rs72653069
NM_000384.3(APOB):c.2823A>G (p.Thr941=) rs200868559
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser) rs13306206
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.3(APOB):c.307T>C (p.Tyr103His) rs9282603
NM_000384.3(APOB):c.3337G>C (p.Asp1113His) rs12713844
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077
NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly) rs149660265
NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys) rs759845943
NM_000384.3(APOB):c.3509-10G>A rs12720770
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.3(APOB):c.3774G>C (p.Leu1258=) rs752823240
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup) rs777844352
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164
NM_000384.3(APOB):c.4280G>A (p.Arg1427His) rs145324793
NM_000384.3(APOB):c.4299G>A (p.Ser1433=) rs376103623
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.3(APOB):c.4371A>G (p.Ala1457=) rs201206305
NM_000384.3(APOB):c.4449A>G (p.Glu1483=) rs151018874
NM_000384.3(APOB):c.4656T>C (p.Ser1552=) rs761580028
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val) rs141225768
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083
NM_000384.3(APOB):c.4838G>C (p.Ser1613Thr) rs61742247
NM_000384.3(APOB):c.499C>T (p.Pro167Ser) rs139842930
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667
NM_000384.3(APOB):c.5322C>T (p.Tyr1774=) rs13306188
NM_000384.3(APOB):c.538-9C>T rs1800478
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser) rs1801699
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509
NM_000384.3(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.3(APOB):c.581C>T (p.Thr194Met) rs13306198
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542
NM_000384.3(APOB):c.5989G>A (p.Asp1997Asn) rs142661577
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.3(APOB):c.6136G>A (p.Val2046Ile) rs72653084
NM_000384.3(APOB):c.6261C>A (p.Thr2087=) rs61744855
NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6875T>C (p.Ile2292Thr) rs145977507
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681
NM_000384.3(APOB):c.6929T>C (p.Ile2310Thr) rs561774487
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val) rs1041968
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp) rs72653091
NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg) rs1369533953
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.3(APOB):c.7570T>C (p.Tyr2524His) rs933777198
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val) rs571626569
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr) rs531273434
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.3(APOB):c.8295A>G (p.Gln2765=) rs767506952
NM_000384.3(APOB):c.83-11C>T rs372452800
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195
NM_000384.3(APOB):c.8720G>A (p.Arg2907His) rs751437976
NM_000384.3(APOB):c.8877G>A (p.Leu2959=) rs765899256
NM_000384.3(APOB):c.8889C>T (p.Ile2963=) rs72653097
NM_000384.3(APOB):c.8912A>C (p.Asn2971Thr) rs72653098
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600
NM_000384.3(APOB):c.905-16A>C rs12720810
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760
NM_000384.3(APOB):c.9140C>G (p.Thr3047Arg) rs61742323
NM_000384.3(APOB):c.9226C>A (p.Leu3076Met) rs72653099
NM_000384.3(APOB):c.9242G>C (p.Ser3081Thr) rs72653100
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.3(APOB):c.9445G>A (p.Asp3149Asn) rs759354804
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000527.4(LDLR):c.-121T>C rs777716188
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.-156C>T rs879254364
NM_000527.4(LDLR):c.-97G>A rs944580031
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1012T>A (p.Cys338Ser) rs879254753
NM_000527.4(LDLR):c.1012T>G (p.Cys338Gly) rs879254753
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
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.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1056C>G (p.Cys352Trp) rs13306515
NM_000527.4(LDLR):c.1056_1060+3del rs879254770
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1061-1G>C rs879254774
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.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.4(LDLR):c.1078G>C (p.Asp360His) rs777926251
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
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.1109A>C (p.Asn370Thr) rs879254792
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.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1187-10G>A rs765696008
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
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.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.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1322T>C (p.Ile441Thr) rs879254862
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1329G>C (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1358+2T>A rs193922567
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.1367T>C (p.Leu456Pro) rs200143634
NM_000527.4(LDLR):c.1402G>A (p.Val468Ile) rs5932
NM_000527.4(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
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.1463T>A (p.Ile488Asn) rs879254913
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.1474G>C (p.Asp492His) rs373646964
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.1516G>A (p.Val506Met) rs373848925
NM_000527.4(LDLR):c.1545C>T (p.Asn515=) rs147896205
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.4(LDLR):c.1586+16G>A rs114891301
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.4(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
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.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1706-1G>T rs879254996
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1729T>C (p.Trp577Arg) rs879255000
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.1761C>G (p.Ser587Arg) rs753430282
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.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1829_1831del (p.Ser610del) rs879255037
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+2T>C rs778408161
NM_000527.4(LDLR):c.1846-1G>A rs879255051
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1864G>A (p.Asp622Asn) rs879255059
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.1874A>C (p.Asn625Thr) rs879255064
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.190+4A>T rs769446356
NM_000527.4(LDLR):c.191-1G>A rs879254433
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.4(LDLR):c.1988-13T>G rs200201131
NM_000527.4(LDLR):c.1988-5C>G rs375877599
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.4(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.4(LDLR):c.2029T>C (p.Cys677Arg) rs775092314
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
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.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2140+1G>A rs145787161
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.2215C>T (p.Gln739Ter) rs370018159
NM_000527.4(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.4(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.4(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
NM_000527.4(LDLR):c.233G>A (p.Arg78His) rs146675823
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389+7G>A rs369551855
NM_000527.4(LDLR):c.2389+8C>T rs747170426
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.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2575G>A (p.Val859Met) rs202049029
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.266G>A (p.Cys89Tyr) rs875989894
NM_000527.4(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.4(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.4(LDLR):c.298G>A (p.Asp100Asn) rs879254459
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.313+5G>T rs879254467
NM_000527.4(LDLR):c.313C>T (p.Pro105Ser) rs13306510
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>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.4(LDLR):c.351C>T (p.His117=) rs200258458
NM_000527.4(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.4(LDLR):c.416A>G (p.Asp139Gly) rs879254518
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.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.501C>A (p.Cys167Ter) rs752596535
NM_000527.4(LDLR):c.502G>A (p.Asp168Asn) rs200727689
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.517T>C (p.Cys173Arg) rs879254558
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.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.622G>A (p.Glu208Lys) rs879254597
NM_000527.4(LDLR):c.622G>T (p.Glu208Ter) rs879254597
NM_000527.4(LDLR):c.656G>A (p.Gly219Asp) rs201384282
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.664T>C (p.Cys222Arg) rs577934998
NM_000527.4(LDLR):c.68-1G>A rs879254397
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.693C>A (p.Cys231Ter) rs121908035
NM_000527.4(LDLR):c.694+9G>A rs34093283
NM_000527.4(LDLR):c.709C>T (p.Arg237Cys) rs879254657
NM_000527.4(LDLR):c.710G>A (p.Arg237His) rs148171426
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.4(LDLR):c.798T>A (p.Asp266Glu) rs139043155
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>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.858C>A (p.Ser286Arg) rs140241383
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.4(LDLR):c.910G>A (p.Asp304Asn) rs121908030
NM_000527.4(LDLR):c.912C>G (p.Asp304Glu) rs875989909
NM_000527.4(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.4(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.4(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.4(LDLR):c.940+9C>T rs17242906
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.993C>T (p.Asp331=) rs147905921
NM_001195798.2(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_001195798.2(LDLR):c.1476_1477CT[1] (p.Ser493fs) rs869025453
NM_001195798.2(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_001195798.2(LDLR):c.2416dup (p.Val806fs) rs773618064
NM_001195798.2(LDLR):c.820del (p.Thr274fs) rs751122998
NM_001195799.2(LDLR):c.190+2358del rs879254440
NM_001195799.2(LDLR):c.190+2385_190+2393del rs879254451
NM_001195800.2(LDLR):c.314-1823_314-1803dup rs879254620
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195800.2(LDLR):c.314-2146_314-2142del rs1057516132
NM_174936.3(PCSK9):c.-8T>C rs886039837
NM_174936.3(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059
NM_174936.3(PCSK9):c.10G>A (p.Val4Ile) rs186669805
NM_174936.3(PCSK9):c.1133_1134delinsAA (p.Cys378Ter) rs1553137557
NM_174936.3(PCSK9):c.1171C>A (p.His391Asn) rs146471967
NM_174936.3(PCSK9):c.1180G>A (p.Gly394Ser) rs368257906
NM_174936.3(PCSK9):c.1270A>G (p.Ile424Val) rs759250273
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.1405C>T (p.Arg469Trp) rs141502002
NM_174936.3(PCSK9):c.1491C>T (p.Gly497=) rs147599496
NM_174936.3(PCSK9):c.1503+20GT[17] rs35115360
NM_174936.3(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.3(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.3(PCSK9):c.1504-5C>G rs763241481
NM_174936.3(PCSK9):c.1504-5_1504-4delCT rs755817854
NM_174936.3(PCSK9):c.1560C>T (p.Val520=) rs542863545
NM_174936.3(PCSK9):c.1606G>A (p.Val536Ile) rs776367625
NM_174936.3(PCSK9):c.1658A>G (p.His553Arg) rs28362270
NM_174936.3(PCSK9):c.1681+17G>A rs200529774
NM_174936.3(PCSK9):c.169G>A (p.Glu57Lys) rs145886902
NM_174936.3(PCSK9):c.1727C>T (p.Pro576Leu) rs72646525
NM_174936.3(PCSK9):c.1773C>G (p.His591Gln) rs529912877
NM_174936.3(PCSK9):c.1856A>C (p.Gln619Pro) rs28362277
NM_174936.3(PCSK9):c.1864-13C>T rs147470944
NM_174936.3(PCSK9):c.1878C>T (p.Cys626=) rs199815786
NM_174936.3(PCSK9):c.1929C>T (p.His643=) rs145770391
NM_174936.3(PCSK9):c.1944C>T (p.Tyr648=) rs138178437
NM_174936.3(PCSK9):c.2022C>T (p.Ala674=) rs886046436
NM_174936.3(PCSK9):c.2023G>A (p.Val675Ile) rs760981278
NM_174936.3(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286
NM_174936.3(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352
NM_174936.3(PCSK9):c.290G>A (p.Arg97His) rs376385276
NM_174936.3(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.3(PCSK9):c.384C>T (p.Gly128=) rs72646503
NM_174936.3(PCSK9):c.525C>T (p.Asp175=) rs148612296
NM_174936.3(PCSK9):c.609C>T (p.Thr203=) rs200856421
NM_174936.3(PCSK9):c.60_65dupGCTGCT rs35574083
NM_174936.3(PCSK9):c.63_65dupGCT rs35574083
NM_174936.3(PCSK9):c.658G>A (p.Ala220Thr) rs768795323
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.757C>T (p.Leu253Phe) rs72646508
NM_174936.3(PCSK9):c.835C>A (p.Pro279Thr) rs72646509
NM_174936.3(PCSK9):c.847C>A (p.Leu283Met) rs72646510
NM_174936.3(PCSK9):c.94G>A (p.Glu32Lys) rs564427867
NM_174936.3(PCSK9):c.993C>T (p.Pro331=) rs376753957
NM_174936.3(PCSK9):c.996+8del rs768213924

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