ClinVar Miner

List of variants in gene APOB reported as likely benign for Familial hypercholesterolemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn) rs1042034 0.76948
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450 0.03392
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202 0.02673
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02201
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly) rs12720854 0.00761
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr) rs12714225 0.00723
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser) rs72653077 0.00198
NM_000384.3(APOB):c.751G>A (p.Ala251Thr) rs61741625 0.00190
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_000384.3(APOB):c.3279C>G (p.Thr1093=) rs72653075 0.00163
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_000384.3(APOB):c.12699G>A (p.Ser4233=) rs56675344 0.00136
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339 0.00136
NM_000384.3(APOB):c.10479G>A (p.Glu3493=) rs113096093 0.00102
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00102
NM_000384.3(APOB):c.13449G>A (p.Ala4483=) rs138421941 0.00092
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506 0.00088
NM_000384.3(APOB):c.3178T>C (p.Leu1060=) rs72653073 0.00077
NM_000384.3(APOB):c.4449A>G (p.Glu1483=) rs151018874 0.00064
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr) rs72653092 0.00061
NM_000384.3(APOB):c.12348T>C (p.Tyr4116=) rs143685680 0.00056
NM_000384.3(APOB):c.7152T>C (p.Val2384=) rs72653090 0.00042
NM_000384.3(APOB):c.11181T>C (p.Ala3727=) rs145894110 0.00038
NM_000384.3(APOB):c.2310C>T (p.Val770=) rs72653064 0.00035
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00034
NM_000384.3(APOB):c.9810C>T (p.Phe3270=) rs138010392 0.00027
NM_000384.3(APOB):c.11820G>A (p.Thr3940=) rs72654417 0.00022
NM_000384.3(APOB):c.7863A>C (p.Leu2621=) rs138497378 0.00022
NM_000384.3(APOB):c.2214T>C (p.Phe738=) rs141155070 0.00021
NM_000384.3(APOB):c.2988C>T (p.Thr996=) rs137875230 0.00021
NM_000384.3(APOB):c.3507T>C (p.Tyr1169=) rs141763789 0.00021
NM_000384.3(APOB):c.13020T>C (p.Tyr4340=) rs141339310 0.00020
NM_000384.3(APOB):c.11442C>T (p.Thr3814=) rs72654408 0.00016
NM_000384.3(APOB):c.9276G>A (p.Arg3092=) rs148951610 0.00015
NM_000384.3(APOB):c.1341C>T (p.His447=) rs370418745 0.00014
NM_000384.3(APOB):c.11568C>T (p.Ile3856=) rs542175556 0.00013
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999 0.00013
NM_000384.3(APOB):c.8877G>A (p.Leu2959=) rs765899256 0.00012
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000384.3(APOB):c.1662G>A (p.Pro554=) rs149835778 0.00010
NM_000384.3(APOB):c.6645C>T (p.His2215=) rs751879183 0.00010
NM_000384.3(APOB):c.2313G>A (p.Pro771=) rs552986140 0.00009
NM_000384.3(APOB):c.4698C>T (p.Tyr1566=) rs374547474 0.00009
NM_000384.3(APOB):c.5235A>C (p.Ser1745=) rs370017829 0.00009
NM_000384.3(APOB):c.10509G>A (p.Ser3503=) rs769351301 0.00008
NM_000384.3(APOB):c.11658C>T (p.Arg3886=) rs757728731 0.00008
NM_000384.3(APOB):c.2160C>T (p.Tyr720=) rs756184175 0.00008
NM_000384.3(APOB):c.4929G>A (p.Ala1643=) rs200623857 0.00008
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00007
NM_000384.3(APOB):c.12381C>T (p.Asp4127=) rs145704672 0.00007
NM_000384.3(APOB):c.3414C>T (p.Leu1138=) rs140456702 0.00007
NM_000384.3(APOB):c.4299G>A (p.Ser1433=) rs376103623 0.00007
NM_000384.3(APOB):c.7998A>G (p.Val2666=) rs1042006 0.00007
NM_000384.3(APOB):c.1344G>A (p.Ala448=) rs148985217 0.00006
NM_000384.3(APOB):c.3864C>A (p.Thr1288=) rs367654009 0.00006
NM_000384.3(APOB):c.8599C>T (p.Leu2867=) rs149430596 0.00006
NM_000384.3(APOB):c.966C>T (p.Ala322=) rs755978246 0.00006
NM_000384.3(APOB):c.10371C>T (p.Ser3457=) rs139891446 0.00005
NM_000384.3(APOB):c.12015C>T (p.Ala4005=) rs995623758 0.00005
NM_000384.3(APOB):c.13452G>A (p.Thr4484=) rs200374122 0.00005
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 0.00005
NM_000384.3(APOB):c.6816C>T (p.His2272=) rs142955287 0.00005
NM_000384.3(APOB):c.6978G>A (p.Gly2326=) rs542336755 0.00005
NM_000384.3(APOB):c.7575A>G (p.Gln2525=) rs377302171 0.00005
NM_000384.3(APOB):c.11091T>C (p.Gly3697=) rs201368496 0.00004
NM_000384.3(APOB):c.13191A>G (p.Thr4397=) rs201618350 0.00004
NM_000384.3(APOB):c.1710A>T (p.Ser570=) rs777247556 0.00004
NM_000384.3(APOB):c.3219C>T (p.Leu1073=) rs750588820 0.00004
NM_000384.3(APOB):c.3894T>C (p.Ile1298=) rs200535828 0.00004
NM_000384.3(APOB):c.5022G>A (p.Glu1674=) rs367718499 0.00004
NM_000384.3(APOB):c.6201C>T (p.His2067=) rs143222685 0.00004
NM_000384.3(APOB):c.6927A>G (p.Arg2309=) rs201066460 0.00004
NM_000384.3(APOB):c.8720G>A (p.Arg2907His) rs751437976 0.00004
NM_000384.3(APOB):c.10056C>A (p.Thr3352=) rs369022661 0.00003
NM_000384.3(APOB):c.12444C>A (p.Ala4148=) rs757789853 0.00003
NM_000384.3(APOB):c.12765C>T (p.Phe4255=) rs746160756 0.00003
NM_000384.3(APOB):c.1518C>G (p.Leu506=) rs145849843 0.00003
NM_000384.3(APOB):c.1953C>T (p.Ala651=) rs1007149732 0.00003
NM_000384.3(APOB):c.2749C>T (p.Leu917=) rs746268646 0.00003
NM_000384.3(APOB):c.2949C>T (p.Asn983=) rs760094793 0.00003
NM_000384.3(APOB):c.3168G>A (p.Gln1056=) rs760548142 0.00003
NM_000384.3(APOB):c.3774G>C (p.Leu1258=) rs752823240 0.00003
NM_000384.3(APOB):c.4140A>C (p.Thr1380=) rs781016611 0.00003
NM_000384.3(APOB):c.4251G>A (p.Thr1417=) rs72653082 0.00003
NM_000384.3(APOB):c.4656T>C (p.Ser1552=) rs761580028 0.00003
NM_000384.3(APOB):c.8079C>T (p.Leu2693=) rs764717489 0.00003
NM_000384.3(APOB):c.12024C>T (p.Thr4008=) rs145269223 0.00002
NM_000384.3(APOB):c.1240C>T (p.Leu414=) rs772077972 0.00002
NM_000384.3(APOB):c.1266A>G (p.Ser422=) rs752197838 0.00002
NM_000384.3(APOB):c.13377T>C (p.Asp4459=) rs746353350 0.00002
NM_000384.3(APOB):c.2331C>G (p.Leu777=) rs759073099 0.00002
NM_000384.3(APOB):c.4260A>C (p.Leu1420=) rs753403908 0.00002
NM_000384.3(APOB):c.4488T>C (p.Tyr1496=) rs1558565720 0.00002
NM_000384.3(APOB):c.4629C>T (p.Ser1543=) rs758993671 0.00002
NM_000384.3(APOB):c.4899T>C (p.Thr1633=) rs752167595 0.00002
NM_000384.3(APOB):c.5274C>T (p.Asn1758=) rs374836160 0.00002
NM_000384.3(APOB):c.690C>A (p.Gly230=) rs151096846 0.00002
NM_000384.3(APOB):c.741C>T (p.Tyr247=) rs753975855 0.00002
NM_000384.3(APOB):c.8511G>A (p.Thr2837=) rs771196833 0.00002
NM_000384.3(APOB):c.8736A>T (p.Thr2912=) rs1465722009 0.00002
NM_000384.3(APOB):c.9546C>T (p.His3182=) rs777648588 0.00002
NM_000384.3(APOB):c.1008C>T (p.Thr336=) rs765904115 0.00001
NM_000384.3(APOB):c.10539T>C (p.Ile3513=) rs145131440 0.00001
NM_000384.3(APOB):c.10734C>T (p.Phe3578=) rs773361538 0.00001
NM_000384.3(APOB):c.1074C>T (p.Leu358=) rs1372235539 0.00001
NM_000384.3(APOB):c.10864C>T (p.Leu3622=) rs769396175 0.00001
NM_000384.3(APOB):c.10974C>T (p.His3658=) rs766178148 0.00001
NM_000384.3(APOB):c.11100G>A (p.Gln3700=) rs983144468 0.00001
NM_000384.3(APOB):c.11427C>T (p.Pro3809=) rs770020211 0.00001
NM_000384.3(APOB):c.11823A>G (p.Leu3941=) rs760679295 0.00001
NM_000384.3(APOB):c.11925C>T (p.His3975=) rs771298370 0.00001
NM_000384.3(APOB):c.12561G>A (p.Lys4187=) rs752965923 0.00001
NM_000384.3(APOB):c.12627G>A (p.Gly4209=) rs770408875 0.00001
NM_000384.3(APOB):c.12957G>A (p.Glu4319=) rs1663011038 0.00001
NM_000384.3(APOB):c.13023C>T (p.Ile4341=) rs1427161140 0.00001
NM_000384.3(APOB):c.13026A>G (p.Pro4342=) rs188585568 0.00001
NM_000384.3(APOB):c.1305T>C (p.Asp435=) rs762687581 0.00001
NM_000384.3(APOB):c.2181T>C (p.Pro727=) rs1572795115 0.00001
NM_000384.3(APOB):c.2412C>T (p.Arg804=) rs755974543 0.00001
NM_000384.3(APOB):c.2445G>A (p.Glu815=) rs1377132994 0.00001
NM_000384.3(APOB):c.2556A>C (p.Gly852=) rs778199079 0.00001
NM_000384.3(APOB):c.2676G>A (p.Pro892=) rs759072451 0.00001
NM_000384.3(APOB):c.2721C>T (p.His907=) rs72653068 0.00001
NM_000384.3(APOB):c.2994C>T (p.Asp998=) rs777501128 0.00001
NM_000384.3(APOB):c.3051C>T (p.Ser1017=) rs558838327 0.00001
NM_000384.3(APOB):c.403A>G (p.Ile135Val) rs769296548 0.00001
NM_000384.3(APOB):c.420G>A (p.Gln140=) rs758439614 0.00001
NM_000384.3(APOB):c.4258C>T (p.Leu1420=) rs1483573722 0.00001
NM_000384.3(APOB):c.4296T>C (p.Asp1432=) rs563766253 0.00001
NM_000384.3(APOB):c.444T>C (p.Asp148=) rs753886477 0.00001
NM_000384.3(APOB):c.4482G>A (p.Ser1494=) rs769700242 0.00001
NM_000384.3(APOB):c.4818C>T (p.Tyr1606=) rs564437453 0.00001
NM_000384.3(APOB):c.5406A>G (p.Lys1802=) rs201432579 0.00001
NM_000384.3(APOB):c.5490C>T (p.Ala1830=) rs886055585 0.00001
NM_000384.3(APOB):c.6282C>T (p.Asn2094=) rs753672830 0.00001
NM_000384.3(APOB):c.6390T>C (p.Asn2130=) rs570798466 0.00001
NM_000384.3(APOB):c.6447T>C (p.Tyr2149=) rs756491255 0.00001
NM_000384.3(APOB):c.6678C>A (p.Ile2226=) rs1191448462 0.00001
NM_000384.3(APOB):c.6822G>A (p.Gln2274=) rs762256882 0.00001
NM_000384.3(APOB):c.703T>C (p.Leu235=) rs1330324619 0.00001
NM_000384.3(APOB):c.7140C>T (p.Val2380=) rs768129683 0.00001
NM_000384.3(APOB):c.7398A>G (p.Leu2466=) rs769499708 0.00001
NM_000384.3(APOB):c.7596T>C (p.Leu2532=) rs781293332 0.00001
NM_000384.3(APOB):c.8112G>A (p.Ala2704=) rs746758433 0.00001
NM_000384.3(APOB):c.8355C>T (p.Asn2785=) rs776502029 0.00001
NM_000384.3(APOB):c.8724C>T (p.Asn2908=) rs755498745 0.00001
NM_000384.3(APOB):c.8766T>G (p.Thr2922=) rs763285729 0.00001
NM_000384.3(APOB):c.909T>C (p.Thr303=) rs1467996353 0.00001
NM_000384.3(APOB):c.9342T>C (p.His3114=) rs142422110 0.00001
NM_000384.3(APOB):c.9975C>A (p.Thr3325=) rs1226284347 0.00001
NM_000384.3(APOB):c.10206C>T (p.Ser3402=) rs200539050
NM_000384.3(APOB):c.1044C>T (p.Phe348=)
NM_000384.3(APOB):c.10560C>T (p.Tyr3520=) rs140768269
NM_000384.3(APOB):c.10581G>C (p.Arg3527=) rs1663135017
NM_000384.3(APOB):c.10596G>T (p.Leu3532=)
NM_000384.3(APOB):c.1071C>T (p.Gly357=) rs769527337
NM_000384.3(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000384.3(APOB):c.11082C>T (p.Thr3694=)
NM_000384.3(APOB):c.11160C>T (p.Ser3720=) rs1663112712
NM_000384.3(APOB):c.11218C>T (p.Leu3740=)
NM_000384.3(APOB):c.11343C>T (p.Leu3781=)
NM_000384.3(APOB):c.11676C>T (p.Pro3892=) rs762760699
NM_000384.3(APOB):c.12316A>C (p.Arg4106=)
NM_000384.3(APOB):c.12378C>T (p.Ile4126=) rs1425740709
NM_000384.3(APOB):c.1242G>A (p.Leu414=)
NM_000384.3(APOB):c.12483A>G (p.Gln4161=)
NM_000384.3(APOB):c.12687C>T (p.Ser4229=)
NM_000384.3(APOB):c.13080T>C (p.Asn4360=)
NM_000384.3(APOB):c.13116A>G (p.Gln4372=) rs755500550
NM_000384.3(APOB):c.13353T>C (p.Tyr4451=)
NM_000384.3(APOB):c.13407T>C (p.Leu4469=)
NM_000384.3(APOB):c.13485T>C (p.Phe4495=)
NM_000384.3(APOB):c.13527C>T (p.Tyr4509=)
NM_000384.3(APOB):c.1551A>G (p.Thr517=)
NM_000384.3(APOB):c.1614C>T (p.Asp538=) rs1663826977
NM_000384.3(APOB):c.1794C>T (p.Ala598=) rs543224958
NM_000384.3(APOB):c.2481T>G (p.Leu827=)
NM_000384.3(APOB):c.255C>T (p.Pro85=) rs1213556365
NM_000384.3(APOB):c.294C>T (p.Thr98=)
NM_000384.3(APOB):c.3159T>C (p.Tyr1053=)
NM_000384.3(APOB):c.3264G>A (p.Thr1088=) rs773824710
NM_000384.3(APOB):c.4371A>T (p.Ala1457=)
NM_000384.3(APOB):c.4392G>A (p.Gln1464=) rs1663352791
NM_000384.3(APOB):c.4422A>G (p.Lys1474=)
NM_000384.3(APOB):c.4611T>C (p.Tyr1537=)
NM_000384.3(APOB):c.4812T>C (p.Ala1604=) rs762885985
NM_000384.3(APOB):c.4881T>C (p.Asn1627=) rs760365614
NM_000384.3(APOB):c.4932A>G (p.Thr1644=)
NM_000384.3(APOB):c.5163C>T (p.Val1721=) rs536182427
NM_000384.3(APOB):c.5401C>T (p.Leu1801=)
NM_000384.3(APOB):c.5553T>C (p.Tyr1851=)
NM_000384.3(APOB):c.555C>T (p.Asn185=)
NM_000384.3(APOB):c.5832T>C (p.His1944=)
NM_000384.3(APOB):c.6021G>C (p.Val2007=) rs148252000
NM_000384.3(APOB):c.6042G>A (p.Leu2014=)
NM_000384.3(APOB):c.633G>A (p.Gln211=)
NM_000384.3(APOB):c.6342C>T (p.Ala2114=) rs768164831
NM_000384.3(APOB):c.7108T>C (p.Leu2370=)
NM_000384.3(APOB):c.7344G>A (p.Gln2448=)
NM_000384.3(APOB):c.7422G>A (p.Lys2474=)
NM_000384.3(APOB):c.744A>C (p.Thr248=)
NM_000384.3(APOB):c.8226G>A (p.Gln2742=) rs376773500
NM_000384.3(APOB):c.8568A>G (p.Thr2856=)
NM_000384.3(APOB):c.864T>G (p.Leu288=)
NM_000384.3(APOB):c.8826T>C (p.His2942=)
NM_000384.3(APOB):c.9327C>T (p.Asn3109=)
NM_000384.3(APOB):c.9714T>C (p.Ser3238=) rs2465362206
NM_000384.3(APOB):c.9867C>T (p.Asp3289=) rs72654404
NM_000384.3(APOB):c.9894C>T (p.Ile3298=)
NM_000384.3(APOB):c.994C>T (p.Leu332=) rs766104996

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