ClinVar Miner

List of variants in gene APOB reported as uncertain significance for Familial hypercholesterolemias

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Gene type:
ClinVar version:
Total variants: 235
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HGVS dbSNP
NM_000384.2(APOB):c.12088-13delT rs751121092
NM_000384.3(APOB):c.10025C>T (p.Ser3342Phe) rs267599180
NM_000384.3(APOB):c.1010T>A (p.Ile337Asn)
NM_000384.3(APOB):c.10267G>A (p.Val3423Met) rs199689957
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg) rs759043889
NM_000384.3(APOB):c.10387G>T (p.Asp3463Tyr) rs1558561406
NM_000384.3(APOB):c.10402A>G (p.Met3468Val) rs149887185
NM_000384.3(APOB):c.10435C>A (p.His3479Asn) rs1190002544
NM_000384.3(APOB):c.10475T>C (p.Ile3492Thr) rs779283285
NM_000384.3(APOB):c.1048A>C (p.Lys350Gln) rs1558574421
NM_000384.3(APOB):c.10508C>T (p.Ser3503Leu) rs375284245
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp) rs754264874
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065
NM_000384.3(APOB):c.10621A>G (p.Ile3541Val) rs4362589
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.10708C>T (p.His3570Tyr) rs201736972
NM_000384.3(APOB):c.1076G>C (p.Ser359Thr) rs1156947034
NM_000384.3(APOB):c.10793C>T (p.Ala3598Val) rs1558561085
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
NM_000384.3(APOB):c.10982T>C (p.Ile3661Thr) rs377425803
NM_000384.3(APOB):c.11010G>T (p.Arg3670Ser) rs148127628
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg) rs374411400
NM_000384.3(APOB):c.11052A>T (p.Leu3684Phe) rs1229930000
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile) rs147564959
NM_000384.3(APOB):c.11261C>T (p.Thr3754Ile) rs139599466
NM_000384.3(APOB):c.11276C>T (p.Pro3759Leu) rs1266759927
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr) rs376825639
NM_000384.3(APOB):c.1133C>T (p.Thr378Ile) rs1558574135
NM_000384.3(APOB):c.11341C>T (p.Leu3781Phe) rs1558560655
NM_000384.3(APOB):c.11792T>C (p.Leu3931Ser) rs1558560211
NM_000384.3(APOB):c.11843C>T (p.Thr3948Ile) rs748945309
NM_000384.3(APOB):c.11854C>T (p.Arg3952Cys) rs535121944
NM_000384.3(APOB):c.11951C>A (p.Thr3984Asn) rs1558560008
NM_000384.3(APOB):c.1199G>A (p.Arg400His) rs530171166
NM_000384.3(APOB):c.12038T>C (p.Met4013Thr) rs144922840
NM_000384.3(APOB):c.12053A>T (p.Asp4018Val) rs771555558
NM_000384.3(APOB):c.1208C>T (p.Ala403Val) rs753112806
NM_000384.3(APOB):c.12122C>G (p.Thr4041Ser) rs776875782
NM_000384.3(APOB):c.12182A>T (p.Glu4061Val) rs747772556
NM_000384.3(APOB):c.12211A>G (p.Lys4071Glu) rs1558559443
NM_000384.3(APOB):c.12222_12225del (p.Pro4075fs) rs1558559427
NM_000384.3(APOB):c.12247G>A (p.Asp4083Asn) rs762211836
NM_000384.3(APOB):c.12364C>A (p.Gln4122Lys) rs767603929
NM_000384.3(APOB):c.12436G>A (p.Asp4146Asn) rs778195760
NM_000384.3(APOB):c.12443_12444delinsAA (p.Ala4148Glu) rs1558559244
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr) rs570782024
NM_000384.3(APOB):c.1258G>A (p.Glu420Lys) rs192004342
NM_000384.3(APOB):c.12614C>T (p.Pro4205Leu) rs375471570
NM_000384.3(APOB):c.12616G>A (p.Gly4206Arg) rs1558559102
NM_000384.3(APOB):c.12674G>A (p.Gly4225Glu) rs1558559061
NM_000384.3(APOB):c.12690G>T (p.Gln4230His) rs1558559027
NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter) rs1466172660
NM_000384.3(APOB):c.12724C>A (p.Leu4242Met)
NM_000384.3(APOB):c.1272G>C (p.Gln424His) rs780691494
NM_000384.3(APOB):c.12890G>A (p.Arg4297His) rs375701380
NM_000384.3(APOB):c.13022T>A (p.Ile4341Asn) rs144018015
NM_000384.3(APOB):c.13026_13027AT[1] (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.13046A>G (p.Lys4349Arg) rs1261837542
NM_000384.3(APOB):c.1310G>T (p.Arg437Leu) rs142114415
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln) rs61742990
NM_000384.3(APOB):c.13181T>C (p.Val4394Ala) rs12720843
NM_000384.3(APOB):c.13399G>A (p.Ala4467Thr) rs1407600482
NM_000384.3(APOB):c.13422G>C (p.Gln4474His) rs146661220
NM_000384.3(APOB):c.1342G>A (p.Ala448Thr) rs752032737
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.13540A>G (p.Ile4514Val) rs1558558348
NM_000384.3(APOB):c.13550C>T (p.Ser4517Phe) rs763773989
NM_000384.3(APOB):c.13564G>A (p.Asp4522Asn) rs767091894
NM_000384.3(APOB):c.1385A>G (p.Glu462Gly) rs1558573118
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710
NM_000384.3(APOB):c.1496T>C (p.Met499Thr) rs1558572961
NM_000384.3(APOB):c.1646T>G (p.Leu549Arg) rs745897939
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys) rs140101603
NM_000384.3(APOB):c.1777G>C (p.Val593Leu) rs781228974
NM_000384.3(APOB):c.1806C>A (p.Asn602Lys) rs1558572342
NM_000384.3(APOB):c.1880T>C (p.Val627Ala) rs1295444626
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys) rs766573431
NM_000384.3(APOB):c.1966G>A (p.Glu656Lys) rs772171897
NM_000384.3(APOB):c.2027C>T (p.Thr676Ile) rs1157714858
NM_000384.3(APOB):c.2123A>G (p.Gln708Arg) rs371190827
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
NM_000384.3(APOB):c.2204T>A (p.Val735Glu) rs199872875
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu) rs148502464
NM_000384.3(APOB):c.2332C>T (p.Arg778Cys) rs774016937
NM_000384.3(APOB):c.2398C>A (p.Leu800Met) rs183950016
NM_000384.3(APOB):c.2410C>T (p.Arg804Cys) rs749308859
NM_000384.3(APOB):c.2437-2A>G rs1558570539
NM_000384.3(APOB):c.2464A>G (p.Lys822Glu) rs1334497935
NM_000384.3(APOB):c.2535G>C (p.Gln845His) rs778467805
NM_000384.3(APOB):c.2585T>C (p.Val862Ala) rs145142090
NM_000384.3(APOB):c.2593G>A (p.Glu865Lys) rs150005693
NM_000384.3(APOB):c.2604+1G>A rs775345377
NM_000384.3(APOB):c.2605-6T>A rs1558570194
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr) rs144622446
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097
NM_000384.3(APOB):c.2635G>A (p.Val879Met) rs564030306
NM_000384.3(APOB):c.2740C>T (p.His914Tyr) rs775976285
NM_000384.3(APOB):c.2746G>C (p.Ala916Pro) rs201689269
NM_000384.3(APOB):c.2769G>C (p.Lys923Asn) rs1558570055
NM_000384.3(APOB):c.283A>G (p.Ser95Gly) rs200318200
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) rs199893862
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr) rs369310292
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783
NM_000384.3(APOB):c.2990G>A (p.Gly997Glu) rs1558568864
NM_000384.3(APOB):c.3032T>C (p.Ile1011Thr) rs760691684
NM_000384.3(APOB):c.3049A>C (p.Ser1017Arg) rs149323475
NM_000384.3(APOB):c.3069G>T (p.Gln1023His) rs1364541592
NM_000384.3(APOB):c.3122G>A (p.Gly1041Asp) rs756341086
NM_000384.3(APOB):c.3208G>A (p.Asp1070Asn) rs368268089
NM_000384.3(APOB):c.3290A>G (p.Gln1097Arg) rs540978306
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly) rs149660265
NM_000384.3(APOB):c.3662T>C (p.Met1221Thr) rs1558567004
NM_000384.3(APOB):c.3671G>A (p.Arg1224Gln) rs530511188
NM_000384.3(APOB):c.3671G>C (p.Arg1224Pro) rs530511188
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164
NM_000384.3(APOB):c.3828C>A (p.Asn1276Lys) rs199966747
NM_000384.3(APOB):c.3878G>C (p.Ser1293Thr) rs141443492
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu) rs201926213
NM_000384.3(APOB):c.3916T>A (p.Ser1306Thr) rs1553384216
NM_000384.3(APOB):c.3935T>C (p.Met1312Thr) rs763989940
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn) rs775070656
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg) rs760203474
NM_000384.3(APOB):c.3997C>G (p.Arg1333Gly) rs121918383
NM_000384.3(APOB):c.400G>A (p.Ala134Thr) rs368321279
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.3(APOB):c.4010T>A (p.Val1337Asp) rs748483943
NM_000384.3(APOB):c.4025T>A (p.Ile1342Asn) rs1558566309
NM_000384.3(APOB):c.4048G>T (p.Val1350Leu) rs371083133
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup) rs777844352
NM_000384.3(APOB):c.4072C>G (p.Leu1358Val) rs565963363
NM_000384.3(APOB):c.4156C>T (p.Arg1386Trp) rs201270852
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly) rs769694008
NM_000384.3(APOB):c.4184C>T (p.Ser1395Phe) rs1558566166
NM_000384.3(APOB):c.4216+4A>G rs886055588
NM_000384.3(APOB):c.4234T>A (p.Tyr1412Asn) rs1553384092
NM_000384.3(APOB):c.4249A>G (p.Thr1417Ala) rs1558565914
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu) rs200708197
NM_000384.3(APOB):c.4351G>A (p.Gly1451Ser) rs970842288
NM_000384.3(APOB):c.4352G>T (p.Gly1451Val) rs777471630
NM_000384.3(APOB):c.4421A>G (p.Lys1474Arg) rs759246439
NM_000384.3(APOB):c.442G>A (p.Asp148Asn) rs757289663
NM_000384.3(APOB):c.4481C>T (p.Ser1494Leu) rs1020402380
NM_000384.3(APOB):c.4502A>G (p.Tyr1501Cys) rs1558565701
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile) rs146247063
NM_000384.3(APOB):c.4593C>G (p.Asn1531Lys) rs1424449148
NM_000384.3(APOB):c.478A>C (p.Ile160Leu) rs1558576053
NM_000384.3(APOB):c.4808A>T (p.Gln1603Leu) rs369598286
NM_000384.3(APOB):c.4829G>A (p.Arg1610Lys) rs770209928
NM_000384.3(APOB):c.488C>T (p.Ala163Val) rs540530658
NM_000384.3(APOB):c.499C>T (p.Pro167Ser) rs139842930
NM_000384.3(APOB):c.5038G>T (p.Ala1680Ser) rs372282063
NM_000384.3(APOB):c.5065C>T (p.Arg1689Cys) rs780820172
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn) rs757793421
NM_000384.3(APOB):c.5168G>T (p.Ser1723Ile) rs570383610
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser) rs529168934
NM_000384.3(APOB):c.5507T>G (p.Ile1836Arg) rs772402035
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp) rs200583769
NM_000384.3(APOB):c.569T>C (p.Phe190Ser) rs1004490491
NM_000384.3(APOB):c.5738G>A (p.Gly1913Asp) rs1189148731
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943
NM_000384.3(APOB):c.5954C>T (p.Thr1985Ile) rs778618250
NM_000384.3(APOB):c.5983G>A (p.Asp1995Asn) rs917338225
NM_000384.3(APOB):c.5989G>A (p.Asp1997Asn)
NM_000384.3(APOB):c.6315T>A (p.Asp2105Glu) rs769837347
NM_000384.3(APOB):c.6417G>C (p.Lys2139Asn) rs1558564270
NM_000384.3(APOB):c.649C>T (p.Pro217Ser) rs573308525
NM_000384.3(APOB):c.655C>T (p.Arg219Cys) rs145661815
NM_000384.3(APOB):c.656G>A (p.Arg219His) rs201606169
NM_000384.3(APOB):c.656G>T (p.Arg219Leu) rs201606169
NM_000384.3(APOB):c.6572T>C (p.Leu2191Ser) rs766444813
NM_000384.3(APOB):c.6590C>A (p.Ala2197Asp) rs1440042376
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys) rs141641980
NM_000384.3(APOB):c.6659T>C (p.Val2220Ala) rs374736992
NM_000384.3(APOB):c.6719A>C (p.Lys2240Thr) rs1558564054
NM_000384.3(APOB):c.676G>A (p.Ala226Thr) rs1163833540
NM_000384.3(APOB):c.6794A>C (p.Lys2265Thr) rs759255307
NM_000384.3(APOB):c.6868G>A (p.Glu2290Lys) rs139857448
NM_000384.3(APOB):c.6875T>C (p.Ile2292Thr) rs145977507
NM_000384.3(APOB):c.689G>C (p.Gly230Ala) rs755661819
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys) rs758067709
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val) rs200034452
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala) rs148429884
NM_000384.3(APOB):c.719G>A (p.Ser240Asn) rs1275483212
NM_000384.3(APOB):c.7231A>G (p.Thr2411Ala) rs1558563685
NM_000384.3(APOB):c.7275G>T (p.Lys2425Asn) rs770657948
NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys) rs754565622
NM_000384.3(APOB):c.7520A>G (p.His2507Arg) rs766283781
NM_000384.3(APOB):c.7550A>G (p.Glu2517Gly) rs776408645
NM_000384.3(APOB):c.7570T>C (p.Tyr2524His) rs933777198
NM_000384.3(APOB):c.7591G>A (p.Glu2531Lys) rs149358359
NM_000384.3(APOB):c.7687G>C (p.Asp2563His) rs755072077
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841
NM_000384.3(APOB):c.7777A>G (p.Ile2593Val) rs758579572
NM_000384.3(APOB):c.7819C>A (p.Leu2607Ile) rs1558563259
NM_000384.3(APOB):c.7841C>T (p.Thr2614Ile) rs761038950
NM_000384.3(APOB):c.7852A>T (p.Ile2618Leu) rs1558563242
NM_000384.3(APOB):c.7964C>G (p.Thr2655Ser) rs148987924
NM_000384.3(APOB):c.7976C>T (p.Pro2659Leu) rs922450819
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe) rs1408828737
NM_000384.3(APOB):c.7984A>T (p.Thr2662Ser) rs886055583
NM_000384.3(APOB):c.8111C>T (p.Ala2704Val) rs201874707
NM_000384.3(APOB):c.8134C>T (p.Arg2712Cys) rs372245645
NM_000384.3(APOB):c.8365A>G (p.Ile2789Val) rs1558562863
NM_000384.3(APOB):c.8366T>C (p.Ile2789Thr) rs941835419
NM_000384.3(APOB):c.8467G>T (p.Ala2823Ser) rs1378244531
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro) rs376974746
NM_000384.3(APOB):c.8824C>T (p.His2942Tyr) rs1558562533
NM_000384.3(APOB):c.890G>A (p.Arg297His)
NM_000384.3(APOB):c.9066T>A (p.Asp3022Glu) rs768447274
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn) rs754332101
NM_000384.3(APOB):c.9134A>C (p.Glu3045Ala) rs1558562330
NM_000384.3(APOB):c.9140C>T (p.Thr3047Met) rs61742323
NM_000384.3(APOB):c.9149C>T (p.Thr3050Ile) rs766404863
NM_000384.3(APOB):c.9176G>A (p.Arg3059His) rs781645624
NM_000384.3(APOB):c.9203T>C (p.Ile3068Thr) rs1558562271
NM_000384.3(APOB):c.9221A>G (p.Tyr3074Cys) rs372902533
NM_000384.3(APOB):c.9239C>A (p.Pro3080His) rs1429705510
NM_000384.3(APOB):c.9242G>C (p.Ser3081Thr) rs72653100
NM_000384.3(APOB):c.9245C>G (p.Ala3082Gly) rs1558562236
NM_000384.3(APOB):c.925G>A (p.Ala309Thr) rs141888564
NM_000384.3(APOB):c.9406C>T (p.Arg3136Cys) rs72653102
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu) rs185224477
NM_000384.3(APOB):c.9544C>A (p.His3182Asn) rs12720848
NM_000384.3(APOB):c.9571G>T (p.Ala3191Ser) rs1558561978
NM_000384.3(APOB):c.9620A>G (p.His3207Arg) rs775854932
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys) rs748318755
NM_000384.3(APOB):c.9641A>G (p.Asn3214Ser) rs763030591
NM_000384.3(APOB):c.9683T>C (p.Ile3228Thr) rs1558561906
NM_000384.3(APOB):c.9779T>C (p.Val3260Ala) rs776808756
NM_000384.3(APOB):c.9798G>C (p.Glu3266Asp) rs749147965
NM_000384.3(APOB):c.9815A>G (p.Tyr3272Cys) rs1220960430

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