List of variants in gene APOB studied for Hypercholesterolemia, familial, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 263

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HGVS	dbSNP	gnomAD frequency
NM_000384.3(APOB):c.7545C>T (p.Thr2515=)	rs693	0.38722
NM_000384.3(APOB):c.2706C>T (p.Asn902=)	rs1801700	0.03627
NM_000384.3(APOB):c.11904-7C>T	rs12720851	0.03622
NM_000384.3(APOB):c.538-9C>T	rs1800478	0.03349
NM_000384.3(APOB):c.10737C>T (p.Thr3579=)	rs12713554	0.02896
NM_000384.3(APOB):c.8148C>T (p.Ile2716=)	rs6413458	0.02288
NM_000384.3(APOB):c.10701G>A (p.Thr3567=)	rs12713558	0.02176
NM_000384.3(APOB):c.4365C>T (p.Phe1455=)	rs12720847	0.01812
NM_000384.3(APOB):c.11808C>T (p.Ile3936=)	rs12720852	0.01624
NM_000384.3(APOB):c.3509-10G>A	rs12720770	0.01624
NM_000384.3(APOB):c.1353-12C>T	rs76202659	0.01423
NM_000384.3(APOB):c.2604+15G>C	rs72653066	0.00842
NM_000384.3(APOB):c.1352+60C>A	rs12714224	0.00793
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.12794T>C (p.Val4265Ala)	rs61743502	0.00516
NM_000384.3(APOB):c.607A>G (p.Ile203Val)	rs72653059	0.00396
NM_000384.3(APOB):c.606A>T (p.Glu202Asp)	rs61746672	0.00387
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.8353A>C (p.Asn2785His)	rs2163204	0.00306
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.1785C>G (p.Ser595=)	rs139864087	0.00247
NM_000384.3(APOB):c.4825T>C (p.Leu1609=)	rs72653083	0.00242
NM_000384.3(APOB):c.3843C>T (p.Ser1281=)	rs72653079	0.00240
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.12766G>A (p.Glu4256Lys)	rs61743313	0.00198
NM_000384.3(APOB):c.3426G>A (p.Ser1142=)	rs142448733	0.00177
NM_000384.3(APOB):c.905-16A>C	rs12720810	0.00172
NM_000384.3(APOB):c.9105T>C (p.Asn3035=)	rs147510760	0.00166
NM_000384.3(APOB):c.581C>T (p.Thr194Met)	rs13306198	0.00162
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=)	rs145777339	0.00139
NM_000384.3(APOB):c.2068-4T>A	rs41291161	0.00108
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)	rs72653093	0.00108
NM_000384.3(APOB):c.3509-11C>T	rs200768300	0.00091
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile)	rs72653078	0.00091
NM_000384.3(APOB):c.1470+15T>C	rs185550846	0.00078
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)	rs143282164	0.00073
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.7152T>C (p.Val2384=)	rs72653090	0.00041
NM_000384.3(APOB):c.9855C>T (p.Ile3285=)	rs72654403	0.00041
NM_000384.3(APOB):c.12252T>C (p.Tyr4084=)	rs138157751	0.00034
NM_000384.3(APOB):c.2853G>A (p.Glu951=)	rs151193347	0.00031
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His)	rs186299244	0.00027
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys)	rs574725520	0.00025
NM_000384.3(APOB):c.5599C>T (p.Arg1867Trp)	rs200583769	0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)	rs148498577	0.00024
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr)	rs141982176	0.00023
NM_000384.3(APOB):c.5763A>G (p.Gly1921=)	rs141022509	0.00023
NM_000384.3(APOB):c.7181T>C (p.Val2394Ala)	rs148429884	0.00023
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr)	rs201736972	0.00021
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr)	rs200261177	0.00020
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile)	rs143710616	0.00019
NM_000384.3(APOB):c.4532C>T (p.Thr1511Ile)	rs146247063	0.00019
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser)	rs142422341	0.00019
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser)	rs151333262	0.00017
NM_000384.3(APOB):c.7721C>T (p.Ala2574Val)	rs150843941	0.00016
NM_000384.3(APOB):c.13302C>T (p.Ser4434=)	rs144040999	0.00013
NM_000384.3(APOB):c.288G>T (p.Gln96His)	rs186544754	0.00012
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.2204T>A (p.Val735Glu)	rs199872875	0.00011
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr)	rs780170292	0.00011
NM_000384.3(APOB):c.574G>A (p.Val192Ile)	rs200662943	0.00011
NM_000384.3(APOB):c.11965C>T (p.Arg3989Cys)	rs150713761	0.00010
NM_000384.3(APOB):c.3670C>T (p.Arg1224Trp)	rs148959244	0.00010
NM_000384.3(APOB):c.499C>T (p.Pro167Ser)	rs139842930	0.00010
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)	rs368278927	0.00009
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys)	rs373477107	0.00009
NM_000384.3(APOB):c.12318A>G (p.Arg4106=)	rs375795401	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.6656G>A (p.Arg2219His)	rs200106845	0.00008
NM_000384.3(APOB):c.10508C>T (p.Ser3503Leu)	rs375284245	0.00007
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln)	rs371337253	0.00007
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)	rs144467873	0.00006
NM_000384.3(APOB):c.11934C>T (p.Ile3978=)	rs539824713	0.00006
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn)	rs138005301	0.00006
NM_000384.3(APOB):c.5863G>A (p.Val1955Met)	rs368970025	0.00006
NM_000384.3(APOB):c.10371C>T (p.Ser3457=)	rs139891446	0.00005
NM_000384.3(APOB):c.13095C>T (p.Asn4365=)	rs13306203	0.00005
NM_000384.3(APOB):c.13452G>A (p.Thr4484=)	rs200374122	0.00005
NM_000384.3(APOB):c.2950G>A (p.Ala984Thr)	rs752149683	0.00005
NM_000384.3(APOB):c.5913G>A (p.Leu1971=)	rs374251542	0.00005
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr)	rs371224295	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.11509G>T (p.Ala3837Ser)	rs1389480980	0.00004
NM_000384.3(APOB):c.3656C>T (p.Thr1219Ile)	rs768005049	0.00004
NM_000384.3(APOB):c.7330C>T (p.Arg2444Cys)	rs754565622	0.00004
NM_000384.3(APOB):c.9694A>G (p.Lys3232Glu)	rs544521341	0.00004
NM_000384.3(APOB):c.10262T>C (p.Met3421Thr)	rs755119833	0.00003
NM_000384.3(APOB):c.1829A>G (p.Asp610Gly)	rs199646491	0.00003
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys)	rs143425834	0.00003
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys)	rs747610107	0.00003
NM_000384.3(APOB):c.3096C>G (p.Thr1032=)	rs757565957	0.00003
NM_000384.3(APOB):c.3851G>A (p.Arg1284Gln)	rs372154910	0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys)	rs747140161	0.00003
NM_000384.3(APOB):c.7853T>C (p.Ile2618Thr)	rs531273434	0.00003
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro)	rs376974746	0.00003
NM_000384.3(APOB):c.889C>T (p.Arg297Cys)	rs766376456	0.00003
NM_000384.3(APOB):c.10037G>T (p.Ser3346Ile)	rs373190270	0.00002
NM_000384.3(APOB):c.10519C>T (p.Arg3507Trp)	rs754264874	0.00002
NM_000384.3(APOB):c.2585T>C (p.Val862Ala)	rs145142090	0.00002
NM_000384.3(APOB):c.4181A>G (p.Asp1394Gly)	rs769694008	0.00002
NM_000384.3(APOB):c.5690G>A (p.Arg1897His)	rs199510126	0.00002
NM_000384.3(APOB):c.690C>A (p.Gly230=)	rs151096846	0.00002
NM_000384.3(APOB):c.8469T>C (p.Ala2823=)	rs531216195	0.00002
NM_000384.3(APOB):c.9095C>A (p.Thr3032Asn)	rs754332101	0.00002
NM_000384.3(APOB):c.10588G>A (p.Val3530Met)	rs200184366	0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)	rs745721296	0.00001
NM_000384.3(APOB):c.10808A>G (p.His3603Arg)	rs370481987	0.00001
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe)	rs571485213	0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val)	rs762255105	0.00001
NM_000384.3(APOB):c.1198C>T (p.Arg400Cys)	rs778866803	0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=)	rs886055573	0.00001
NM_000384.3(APOB):c.1266A>G (p.Ser422=)	rs752197838	0.00001
NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter)	rs1466172660	0.00001
NM_000384.3(APOB):c.1280G>A (p.Arg427Gln)	rs755407886	0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys)	rs886055572	0.00001
NM_000384.3(APOB):c.13059C>A (p.Cys4353Ter)	rs935792706	0.00001
NM_000384.3(APOB):c.13160A>T (p.Glu4387Val)	rs150412734	0.00001
NM_000384.3(APOB):c.1617+7T>C	rs374552390	0.00001
NM_000384.3(APOB):c.2177T>C (p.Val726Ala)	rs886055593	0.00001
NM_000384.3(APOB):c.3051C>T (p.Ser1017=)	rs558838327	0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr)	rs149357946	0.00001
NM_000384.3(APOB):c.3425C>T (p.Ser1142Leu)	rs199859104	0.00001
NM_000384.3(APOB):c.4027C>T (p.Pro1343Ser)	rs374427541	0.00001
NM_000384.3(APOB):c.403A>G (p.Ile135Val)	rs769296548	0.00001
NM_000384.3(APOB):c.4216+4A>G	rs886055588	0.00001
NM_000384.3(APOB):c.5616C>T (p.Ile1872=)	rs1487486971	0.00001
NM_000384.3(APOB):c.5646C>G (p.Ser1882Arg)	rs1012783946	0.00001
NM_000384.3(APOB):c.5654A>G (p.Tyr1885Cys)	rs762705866	0.00001
NM_000384.3(APOB):c.6943G>A (p.Glu2315Lys)	rs1223711938	0.00001
NM_000384.3(APOB):c.7283A>G (p.Lys2428Arg)	rs1369533953	0.00001
NM_000384.3(APOB):c.818+14T>C	rs753032495	0.00001
NM_000384.3(APOB):c.9633C>A (p.Asn3211Lys)	rs748318755	0.00001
NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)
NM_000384.3(APOB):c.10163C>T (p.Thr3388Ile)	rs1553383038
NM_000384.3(APOB):c.10182G>T (p.Lys3394Asn)	rs1382988295
NM_000384.3(APOB):c.10193C>T (p.Ala3398Val)	rs1367798781
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu)
NM_000384.3(APOB):c.10367C>T (p.Ser3456Phe)	rs1217782046
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000384.3(APOB):c.10580G>T (p.Arg3527Leu)	rs5742904
NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)
NM_000384.3(APOB):c.10602C>A (p.Gly3534=)	rs886039828
NM_000384.3(APOB):c.10629C>G (p.Asn3543Lys)	rs1553382944
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp)	rs1418775778
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys)	rs150312765
NM_000384.3(APOB):c.10740C>T (p.Asn3580=)	rs150312765
NM_000384.3(APOB):c.10768G>A (p.Glu3590Lys)	rs747606537
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11401T>A (p.Ser3801Thr)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.1166A>G (p.Gln389Arg)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.11789-2A>C
NM_000384.3(APOB):c.12088-13del	rs751121092
NM_000384.3(APOB):c.12088-23dup	rs751121092
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.12310C>A (p.Leu4104Met)	rs199668351
NM_000384.3(APOB):c.12343G>A (p.Val4115Ile)	rs765681925
NM_000384.3(APOB):c.12382G>A (p.Val4128Met)
NM_000384.3(APOB):c.12460G>A (p.Glu4154Lys)	rs767587977
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.12697T>A (p.Ser4233Thr)
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr)
NM_000384.3(APOB):c.12824A>C (p.Asp4275Ala)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs)	rs760832994
NM_000384.3(APOB):c.1310G>A (p.Arg437His)
NM_000384.3(APOB):c.13114C>T (p.Gln4372Ter)	rs1442815965
NM_000384.3(APOB):c.13116A>G (p.Gln4372=)	rs755500550
NM_000384.3(APOB):c.13126C>T (p.Gln4376Ter)	rs1553382326
NM_000384.3(APOB):c.13129_13130del (p.Ile4377fs)	rs1553382325
NM_000384.3(APOB):c.13135C>T (p.Gln4379Ter)	rs1553382319
NM_000384.3(APOB):c.13151T>C (p.Leu4384Pro)	rs1339117465
NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys)	rs864309556
NM_000384.3(APOB):c.13158del (p.Glu4387fs)	rs886039829
NM_000384.3(APOB):c.13168G>C (p.Asp4390His)	rs771015234
NM_000384.3(APOB):c.13196A>C (p.Lys4399Thr)	rs1553382300
NM_000384.3(APOB):c.13220T>C (p.Ile4407Thr)	rs1553382295
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met)
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)	rs562574661
NM_000384.3(APOB):c.13555A>G (p.Arg4519Gly)
NM_000384.3(APOB):c.1402A>G (p.Asn468Asp)	rs886804701
NM_000384.3(APOB):c.1493C>T (p.Thr498Ile)	rs758928147
NM_000384.3(APOB):c.1580C>T (p.Ala527Val)	rs886039827
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1618-13C>T	rs1553386146
NM_000384.3(APOB):c.1661C>T (p.Pro554Leu)
NM_000384.3(APOB):c.1734C>T (p.Val578=)	rs1553386125
NM_000384.3(APOB):c.1773C>T (p.Asn591=)	rs1553386116
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2184T>C (p.Asp728=)	rs1325443043
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.2297_2298del (p.Lys766fs)	rs1553385715
NM_000384.3(APOB):c.2308G>A (p.Val770Ile)	rs1415675587
NM_000384.3(APOB):c.2786dup (p.Arg931fs)	rs1553385404
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.2917C>A (p.Leu973Met)	rs886055592
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.3012del (p.Glu1004fs)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.3122-6G>A	rs72653071
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3362A>G (p.Lys1121Arg)	rs879255342
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
NM_000384.3(APOB):c.3491G>A (p.Arg1164Lys)	rs759845943
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn)	rs375894411
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu)	rs966817615
NM_000384.3(APOB):c.4265G>A (p.Cys1422Tyr)
NM_000384.3(APOB):c.433C>T (p.Pro145Ser)
NM_000384.3(APOB):c.4590del (p.Asn1531fs)
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)
NM_000384.3(APOB):c.4663A>G (p.Ile1555Val)
NM_000384.3(APOB):c.4900G>A (p.Asp1634Asn)	rs886055587
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.509_515del (p.Thr170fs)	rs1572802096
NM_000384.3(APOB):c.538-8C>T	rs886039826
NM_000384.3(APOB):c.5715G>A (p.Met1905Ile)	rs754036439
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)	rs541497967
NM_000384.3(APOB):c.6815A>G (p.His2272Arg)	rs1553383649
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.689G>T (p.Gly230Val)	rs755661819
NM_000384.3(APOB):c.6922G>A (p.Glu2308Lys)	rs1304703582
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.6937= (p.Ile2313=)
NM_000384.3(APOB):c.6979G>A (p.Asp2327Asn)	rs1553383590
NM_000384.3(APOB):c.7134C>A (p.Ser2378Arg)	rs793888518
NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs)	rs1663251692
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7296C>T (p.Tyr2432=)	rs1553383536
NM_000384.3(APOB):c.7367C>A (p.Ala2456Asp)
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile)	rs768221258
NM_000384.3(APOB):c.7825A>G (p.Lys2609Glu)	rs730880051
NM_000384.3(APOB):c.814_816del (p.Tyr272del)	rs1553386960
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.830G>T (p.Gly277Val)	rs1057516137
NM_000384.3(APOB):c.900T>C (p.Gly300=)	rs549628916
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9387T>G (p.Pro3129=)	rs769437017
NM_000384.3(APOB):c.9471C>T (p.Gly3157=)	rs746031928
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000384.3(APOB):c.9880T>C (p.Ser3294Pro)

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