ClinVar Miner

List of variants in gene APOB reported as uncertain significance for Familial hypobetalipoproteinemia 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 224
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HGVS dbSNP gnomAD frequency
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458 0.02288
NM_000384.3(APOB):c.2244+3G>A rs12714189 0.00920
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_000384.3(APOB):c.904+11C>G rs148944625 0.00522
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059 0.00396
NM_000384.3(APOB):c.6261C>A (p.Thr2087=) rs61744855 0.00366
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696 0.00305
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_000384.3(APOB):c.4825T>C (p.Leu1609=) rs72653083 0.00242
NM_000384.3(APOB):c.2295G>A (p.Leu765=) rs72653063 0.00235
NM_000384.3(APOB):c.12803T>C (p.Met4268Thr) rs72654422 0.00222
NM_000384.3(APOB):c.7242A>C (p.Glu2414Asp) rs72653091 0.00222
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974 0.00213
NM_000384.3(APOB):c.8889C>T (p.Ile2963=) rs72653097 0.00213
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698 0.00212
NM_000384.3(APOB):c.7615G>A (p.Val2539Ile) rs148170480 0.00210
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733 0.00177
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339 0.00139
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00108
NM_000384.3(APOB):c.12807T>C (p.Tyr4269=) rs181340304 0.00093
NM_000384.3(APOB):c.3509-11C>T rs200768300 0.00091
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506 0.00090
NM_000384.3(APOB):c.4375A>G (p.Ser1459Gly) rs140877474 0.00089
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187 0.00088
NM_000384.3(APOB):c.13102C>G (p.Gln4368Glu) rs72654424 0.00080
NM_000384.3(APOB):c.3178T>C (p.Leu1060=) rs72653073 0.00078
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196 0.00073
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_000384.3(APOB):c.2630C>T (p.Pro877Leu) rs12714097 0.00063
NM_000384.3(APOB):c.285C>A (p.Ser95Arg) rs143613534 0.00058
NM_000384.3(APOB):c.12348T>C (p.Tyr4116=) rs143685680 0.00056
NM_000384.3(APOB):c.7152T>C (p.Val2384=) rs72653090 0.00041
NM_000384.3(APOB):c.6136G>A (p.Val2046Ile) rs72653084 0.00035
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=) rs138157751 0.00034
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244 0.00027
NM_000384.3(APOB):c.8912A>C (p.Asn2971Thr) rs72653098 0.00026
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000384.3(APOB):c.3332+12C>T rs370058811 0.00022
NM_000384.3(APOB):c.7863A>C (p.Leu2621=) rs138497378 0.00022
NM_000384.3(APOB):c.13020T>C (p.Tyr4340=) rs141339310 0.00021
NM_000384.3(APOB):c.2988C>T (p.Thr996=) rs137875230 0.00021
NM_000384.3(APOB):c.11244G>A (p.Thr3748=) rs72654406 0.00020
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_000384.3(APOB):c.4449A>G (p.Glu1483=) rs151018874 0.00020
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616 0.00019
NM_000384.3(APOB):c.12016G>A (p.Val4006Ile) rs183117027 0.00019
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699 0.00019
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341 0.00019
NM_000384.3(APOB):c.12051C>T (p.Asp4017=) rs12713501 0.00013
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999 0.00013
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr) rs144622446 0.00013
NM_000384.3(APOB):c.11542G>A (p.Ala3848Thr) rs61743512 0.00012
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754 0.00012
NM_000384.3(APOB):c.12088-14T>C rs182329513 0.00011
NM_000384.3(APOB):c.2204T>A (p.Val735Glu) rs199872875 0.00011
NM_000384.3(APOB):c.10253C>T (p.Thr3418Met) rs765298217 0.00010
NM_000384.3(APOB):c.10575C>T (p.Ser3525=) rs142573551 0.00010
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279 0.00010
NM_000384.3(APOB):c.499C>T (p.Pro167Ser) rs139842930 0.00010
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg) rs759043889 0.00009
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile) rs147564959 0.00009
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185 0.00009
NM_000384.3(APOB):c.12137G>A (p.Arg4046Gln) rs149273387 0.00009
NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) rs201128198 0.00009
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn) rs775070656 0.00009
NM_000384.3(APOB):c.12318A>G (p.Arg4106=) rs375795401 0.00008
NM_000384.3(APOB):c.13175G>A (p.Ser4392Asn) rs777718986 0.00008
NM_000384.3(APOB):c.2823A>G (p.Thr941=) rs200868559 0.00008
NM_000384.3(APOB):c.8334G>A (p.Gly2778=) rs142056660 0.00008
NM_000384.3(APOB):c.11443G>A (p.Val3815Met) rs551178628 0.00007
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253 0.00007
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114 0.00007
NM_000384.3(APOB):c.11904-15T>A rs370325726 0.00006
NM_000384.3(APOB):c.1648G>C (p.Asp550His) rs145862664 0.00006
NM_000384.3(APOB):c.3449T>A (p.Met1150Lys) rs146223051 0.00006
NM_000384.3(APOB):c.4421A>G (p.Lys1474Arg) rs759246439 0.00006
NM_000384.3(APOB):c.10371C>T (p.Ser3457=) rs139891446 0.00005
NM_000384.3(APOB):c.11362G>A (p.Glu3788Lys) rs13306191 0.00005
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr) rs570782024 0.00005
NM_000384.3(APOB):c.13022T>A (p.Ile4341Asn) rs144018015 0.00005
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295 0.00005
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly) rs779100523 0.00005
NM_000384.3(APOB):c.7989T>C (p.Ile2663=) rs199642915 0.00005
NM_000384.3(APOB):c.8373T>C (p.Ala2791=) rs371493888 0.00005
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065 0.00004
NM_000384.3(APOB):c.10739A>G (p.Asn3580Ser) rs762028704 0.00004
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr) rs376825639 0.00004
NM_000384.3(APOB):c.11789-8C>T rs201274370 0.00004
NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp) rs756476242 0.00004
NM_000384.3(APOB):c.12444C>A (p.Ala4148=) rs757789853 0.00004
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile) rs370180297 0.00004
NM_000384.3(APOB):c.13191A>G (p.Thr4397=) rs201618350 0.00004
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710 0.00004
NM_000384.3(APOB):c.1953C>T (p.Ala651=) rs1007149732 0.00004
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg) rs72653074 0.00004
NM_000384.3(APOB):c.5322C>T (p.Tyr1774=) rs13306188 0.00004
NM_000384.3(APOB):c.6283G>A (p.Val2095Ile) rs200874264 0.00004
NM_000384.3(APOB):c.6551A>G (p.Tyr2184Cys) rs184512808 0.00004
NM_000384.3(APOB):c.9452C>T (p.Ser3151Phe) rs560928668 0.00004
NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu) rs544521341 0.00004
NM_000384.3(APOB):c.10344C>T (p.Thr3448=) rs13306193 0.00003
NM_000384.3(APOB):c.3034G>A (p.Glu1012Lys) rs575505383 0.00003
NM_000384.3(APOB):c.3249T>C (p.Ser1083=) rs766023894 0.00003
NM_000384.3(APOB):c.4143C>A (p.Asp1381Glu) rs754597311 0.00003
NM_000384.3(APOB):c.4299G>A (p.Ser1433=) rs376103623 0.00003
NM_000384.3(APOB):c.4656T>C (p.Ser1552=) rs761580028 0.00003
NM_000384.3(APOB):c.4968A>T (p.Ala1656=) rs753643550 0.00003
NM_000384.3(APOB):c.598G>A (p.Ala200Thr) rs763878189 0.00003
NM_000384.3(APOB):c.6513A>G (p.Leu2171=) rs547853968 0.00003
NM_000384.3(APOB):c.6659T>C (p.Val2220Ala) rs374736992 0.00003
NM_000384.3(APOB):c.7565G>A (p.Arg2522Gln) rs781243278 0.00003
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305 0.00003
NM_000384.3(APOB):c.889C>T (p.Arg297Cys) rs766376456 0.00003
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly) rs757383498 0.00002
NM_000384.3(APOB):c.11441C>A (p.Thr3814Asn) rs768822240 0.00002
NM_000384.3(APOB):c.11855G>A (p.Arg3952His) rs886055576 0.00002
NM_000384.3(APOB):c.12024C>T (p.Thr4008=) rs145269223 0.00002
NM_000384.3(APOB):c.1342G>A (p.Ala448Thr) rs752032737 0.00002
NM_000384.3(APOB):c.1408C>T (p.Leu470=) rs752762799 0.00002
NM_000384.3(APOB):c.2740C>T (p.His914Tyr) rs775976285 0.00002
NM_000384.3(APOB):c.435G>A (p.Pro145=) rs576323709 0.00002
NM_000384.3(APOB):c.5690G>A (p.Arg1897His) rs199510126 0.00002
NM_000384.3(APOB):c.6070A>G (p.Ile2024Val) rs564588440 0.00002
NM_000384.3(APOB):c.8469T>C (p.Ala2823=) rs531216195 0.00002
NM_000384.3(APOB):c.921C>A (p.Gly307=) rs748674098 0.00002
NM_000384.3(APOB):c.10128A>G (p.Ala3376=) rs886055579 0.00001
NM_000384.3(APOB):c.10314G>T (p.Met3438Ile) rs761164094 0.00001
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe) rs571485213 0.00001
NM_000384.3(APOB):c.11374C>T (p.Pro3792Ser) rs767327489 0.00001
NM_000384.3(APOB):c.11585T>C (p.Ile3862Thr) rs772015796 0.00001
NM_000384.3(APOB):c.11929A>C (p.Asn3977His) rs761528809 0.00001
NM_000384.3(APOB):c.11942C>T (p.Pro3981Leu) rs886055575 0.00001
NM_000384.3(APOB):c.1199G>A (p.Arg400His) rs530171166 0.00001
NM_000384.3(APOB):c.12343G>T (p.Val4115Phe) rs765681925 0.00001
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter) rs935792706 0.00001
NM_000384.3(APOB):c.1617+7T>C rs374552390 0.00001
NM_000384.3(APOB):c.1837A>C (p.Lys613Gln) rs1246400480 0.00001
NM_000384.3(APOB):c.1993A>T (p.Asn665Tyr) rs755666654 0.00001
NM_000384.3(APOB):c.2398C>A (p.Leu800Met) rs183950016 0.00001
NM_000384.3(APOB):c.2861C>T (p.Pro954Leu) rs148943299 0.00001
NM_000384.3(APOB):c.3023C>G (p.Thr1008Arg) rs1663539785 0.00001
NM_000384.3(APOB):c.354C>A (p.Asn118Lys) rs781633079 0.00001
NM_000384.3(APOB):c.3795C>G (p.Asn1265Lys) rs886055590 0.00001
NM_000384.3(APOB):c.386A>G (p.Tyr129Cys) rs201368319 0.00001
NM_000384.3(APOB):c.3881T>C (p.Leu1294Ser) rs886055589 0.00001
NM_000384.3(APOB):c.4048G>A (p.Val1350Met) rs371083133 0.00001
NM_000384.3(APOB):c.4411T>C (p.Leu1471=) rs542169352 0.00001
NM_000384.3(APOB):c.6342C>T (p.Ala2114=) rs768164831 0.00001
NM_000384.3(APOB):c.638A>T (p.Asp213Val) rs370711366 0.00001
NM_000384.3(APOB):c.6707T>C (p.Ile2236Thr) rs781584312 0.00001
NM_000384.3(APOB):c.7984A>C (p.Thr2662Pro) rs886055583 0.00001
NM_000384.3(APOB):c.9202A>G (p.Ile3068Val) rs778492524 0.00001
NM_000384.3(APOB):c.9842C>A (p.Pro3281His) rs1393956366 0.00001
NM_000384.3(APOB):c.10283C>A (p.Thr3428Asn) rs764056784
NM_000384.3(APOB):c.10324C>A (p.Gln3442Lys) rs1663143963
NM_000384.3(APOB):c.10929T>C (p.Ser3643=) rs886055578
NM_000384.3(APOB):c.1124G>A (p.Ser375Asn) rs2103380386
NM_000384.3(APOB):c.11312A>T (p.Tyr3771Phe) rs773390117
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11541C>T (p.Ile3847=) rs886055577
NM_000384.3(APOB):c.11561C>T (p.Thr3854Ile) rs1663097155
NM_000384.3(APOB):c.11571G>A (p.Val3857=) rs113604891
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.11820G>T (p.Thr3940=) rs72654417
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val) rs369364335
NM_000384.3(APOB):c.12057T>A (p.Phe4019Leu) rs1663067839
NM_000384.3(APOB):c.12063A>G (p.Lys4021=) rs1284277065
NM_000384.3(APOB):c.12111C>T (p.Thr4037=) rs1018981649
NM_000384.3(APOB):c.12178G>C (p.Glu4060Gln) rs886055574
NM_000384.3(APOB):c.12194G>C (p.Gly4065Ala) rs1663041181
NM_000384.3(APOB):c.12297A>G (p.Glu4099=) rs1663038044
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.12976A>T (p.Ile4326Phe) rs756920137
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.1975C>T (p.Leu659Phe) rs1026800482
NM_000384.3(APOB):c.2089T>G (p.Phe697Val) rs1663745146
NM_000384.3(APOB):c.2245-9A>G
NM_000384.3(APOB):c.2482C>T (p.His828Tyr) rs1663667473
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3165G>T (p.Arg1055=) rs748079943
NM_000384.3(APOB):c.3201G>A (p.Pro1067=) rs200281277
NM_000384.3(APOB):c.3331A>C (p.Ser1111Arg) rs886055591
NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys) rs759845943
NM_000384.3(APOB):c.3760C>T (p.His1254Tyr) rs779298957
NM_000384.3(APOB):c.382A>G (p.Arg128Gly) rs1664115534
NM_000384.3(APOB):c.4162C>T (p.Arg1388Cys) rs267599185
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
NM_000384.3(APOB):c.495G>C (p.Leu165=) rs886055595
NM_000384.3(APOB):c.5006A>G (p.Asn1669Ser) rs886055586
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5403G>C (p.Leu1801=) rs149787297
NM_000384.3(APOB):c.5490C>G (p.Ala1830=) rs886055585
NM_000384.3(APOB):c.5711C>T (p.Thr1904Ile) rs1663307953
NM_000384.3(APOB):c.602C>T (p.Thr201Ile) rs886055594
NM_000384.3(APOB):c.6063C>G (p.Asp2021Glu) rs556582055
NM_000384.3(APOB):c.6304A>G (p.Ile2102Val) rs886055584
NM_000384.3(APOB):c.6368A>G (p.Asn2123Ser) rs1663277875
NM_000384.3(APOB):c.6522G>T (p.Leu2174=) rs1444341722
NM_000384.3(APOB):c.6765G>A (p.Lys2255=) rs372343882
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.6929T>C (p.Ile2310Thr) rs561774487
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val) rs571626569
NM_000384.3(APOB):c.7846G>T (p.Asp2616Tyr) rs1663230985
NM_000384.3(APOB):c.8013G>T (p.Lys2671Asn) rs771166697
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile) rs375053331
NM_000384.3(APOB):c.8231C>T (p.Pro2744Leu) rs886055582
NM_000384.3(APOB):c.8363G>T (p.Gly2788Val) rs534116066
NM_000384.3(APOB):c.8375C>G (p.Ser2792Cys) rs368776368
NM_000384.3(APOB):c.8823A>T (p.Thr2941=) rs1663196217
NM_000384.3(APOB):c.9140C>G (p.Thr3047Arg) rs61742323
NM_000384.3(APOB):c.925G>T (p.Ala309Ser) rs141888564
NM_000384.3(APOB):c.9530A>G (p.Tyr3177Cys) rs886055581
NM_000384.3(APOB):c.9746C>T (p.Pro3249Leu) rs886055580
NM_000384.3(APOB):c.9886A>G (p.Thr3296Ala) rs746574336
NM_000384.3(APOB):c.9910C>T (p.Leu3304=) rs1663161247

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