ClinVar Miner

List of variants studied for Familial hypobetalipoproteinemia

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 243
Download table as spreadsheet
HGVS dbSNP
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
NM_000384.2(APOB):c.11905del (p.Glu3969Asnfs) rs387906569
NM_000384.3(APOB):c.*11G>T rs72654428
NM_000384.3(APOB):c.*179C>T rs142151703
NM_000384.3(APOB):c.*180G>T rs12720763
NM_000384.3(APOB):c.*207C>A rs886055566
NM_000384.3(APOB):c.*229A>G rs72654430
NM_000384.3(APOB):c.*85T>C rs886055569
NM_000384.3(APOB):c.10575C>T (p.Ser3525=) rs142573551
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065
NM_000384.3(APOB):c.10633G>T (p.Glu3545Ter) rs759934326
NM_000384.3(APOB):c.10701G>A (p.Thr3567=) rs12713558
NM_000384.3(APOB):c.10737C>T (p.Thr3579=) rs12713554
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly) rs757383498
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.10929T>C (p.Ser3643=) rs886055578
NM_000384.3(APOB):c.11257T>C (p.Phe3753Leu) rs61741974
NM_000384.3(APOB):c.11312A>T (p.Tyr3771Phe) rs773390117
NM_000384.3(APOB):c.11354C>T (p.Thr3785Ile) rs143710616
NM_000384.3(APOB):c.11362G>A (p.Glu3788Lys) rs13306191
NM_000384.3(APOB):c.11443G>A (p.Val3815Met) rs551178628
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105
NM_000384.3(APOB):c.11571G>A (p.Val3857=) rs113604891
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852
NM_000384.3(APOB):c.11808C>T (p.Ile3936=) rs12720852
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185
NM_000384.3(APOB):c.11820G>T (p.Thr3940=) rs72654417
NM_000384.3(APOB):c.11833A>G (p.Thr3945Ala) rs1801698
NM_000384.3(APOB):c.11855G>A (p.Arg3952His) rs886055576
NM_000384.3(APOB):c.11904-15T>A rs370325726
NM_000384.3(APOB):c.11904-7C>T rs12720851
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107
NM_000384.3(APOB):c.11929A>C (p.Asn3977His) rs761528809
NM_000384.3(APOB):c.11942C>T (p.Pro3981Leu) rs886055575
NM_000384.3(APOB):c.12024C>T (p.Thr4008=) rs145269223
NM_000384.3(APOB):c.12088-14T>C rs182329513
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.12137G>A (p.Arg4046Gln) rs149273387
NM_000384.3(APOB):c.12178G>C (p.Glu4060Gln) rs886055574
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573
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.12443C>A (p.Ala4148Asp) rs756476242
NM_000384.3(APOB):c.12444C>A (p.Ala4148=) rs757789853
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.3(APOB):c.12807T>C (p.Tyr4269=) rs181340304
NM_000384.3(APOB):c.12809G>C (p.Arg4270Thr) rs1801702
NM_000384.3(APOB):c.12903C>T (p.Asp4301=) rs200145506
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572
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.13102C>G (p.Gln4368Glu) rs72654424
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699
NM_000384.3(APOB):c.13451C>T (p.Thr4484Met) rs12713450
NM_000384.3(APOB):c.1353-12C>T rs76202659
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710
NM_000384.3(APOB):c.1470+15T>C rs185550846
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp) rs13306194
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.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn) rs12714192
NM_000384.3(APOB):c.2244+3G>A rs12714189
NM_000384.3(APOB):c.2604+15G>C rs72653066
NM_000384.3(APOB):c.2706C>T (p.Asn902=) rs1801700
NM_000384.3(APOB):c.2728G>T (p.Gly910Cys) rs747610107
NM_000384.3(APOB):c.2740C>T (p.His914Tyr) rs775976285
NM_000384.3(APOB):c.2786del (p.Pro929fs) rs1553385404
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.285C>A (p.Ser95Arg) rs143613534
NM_000384.3(APOB):c.2861C>T (p.Pro954Leu) rs148943299
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.3(APOB):c.3122-6G>A rs72653071
NM_000384.3(APOB):c.3165G>T (p.Arg1055=) rs748079943
NM_000384.3(APOB):c.3178T>C (p.Leu1060=) rs72653073
NM_000384.3(APOB):c.3331A>C (p.Ser1111Arg) rs886055591
NM_000384.3(APOB):c.3332+12C>T rs370058811
NM_000384.3(APOB):c.3426G>A (p.Ser1142=) rs142448733
NM_000384.3(APOB):c.3471T>C (p.Tyr1157=) rs201128198
NM_000384.3(APOB):c.3509-10G>A rs12720770
NM_000384.3(APOB):c.3509-11C>T rs200768300
NM_000384.3(APOB):c.354C>A (p.Asn118Lys) rs781633079
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.3614_3625delinsCTTAGG (p.His1205_Asn1209delinsProTer) rs1553384441
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met) rs61736761
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279
NM_000384.3(APOB):c.4089C>G (p.Tyr1363Ter) rs1553384177
NM_000384.3(APOB):c.4143C>A (p.Asp1381Glu) rs754597311
NM_000384.3(APOB):c.4163G>A (p.Arg1388His) rs13306187
NM_000384.3(APOB):c.4216+4A>G rs886055588
NM_000384.3(APOB):c.433C>T (p.Pro145Ser) rs6752026
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4365C>T (p.Phe1455=) rs12720847
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
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.4929G>A (p.Ala1643=) rs200623857
NM_000384.3(APOB):c.4968A>T (p.Ala1656=) rs753643550
NM_000384.3(APOB):c.5006A>G (p.Asn1669Ser) rs886055586
NM_000384.3(APOB):c.5238T>G (p.Tyr1746Ter) rs1553383898
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.538-9C>T rs1800478
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5490C>G (p.Ala1830=) rs886055585
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253
NM_000384.3(APOB):c.5763A>G (p.Gly1921=) rs141022509
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.602C>T (p.Thr201Ile) rs886055594
NM_000384.3(APOB):c.607A>G (p.Ile203Val) rs72653059
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386
NM_000384.3(APOB):c.6304A>G (p.Ile2102Val) rs886055584
NM_000384.3(APOB):c.6342C>T (p.Ala2114=) rs768164831
NM_000384.3(APOB):c.638A>T (p.Asp213Val) rs370711366
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845
NM_000384.3(APOB):c.6895G>C (p.Asp2299His) rs12713681
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.7405T>A (p.Phe2469Ile) rs768221258
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161
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.7655A>G (p.Asp2552Gly) rs779100523
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305
NM_000384.3(APOB):c.7984A>C (p.Thr2662Pro) rs886055583
NM_000384.3(APOB):c.7989T>C (p.Ile2663=) rs199642915
NM_000384.3(APOB):c.8148C>T (p.Ile2716=) rs6413458
NM_000384.3(APOB):c.819-2A>G
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000384.3(APOB):c.8231C>T (p.Pro2744Leu) rs886055582
NM_000384.3(APOB):c.83-11C>T rs372452800
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204
NM_000384.3(APOB):c.8373T>C (p.Ala2791=) rs371493888
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.904+11C>G rs148944625
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000384.3(APOB):c.9202A>G (p.Ile3068Val) rs778492524
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
NM_000384.3(APOB):c.9477G>A (p.Lys3159=) rs13306196
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114
NM_000384.3(APOB):c.9746C>T (p.Pro3249Leu) rs886055580
NM_000384.3(APOB):c.9811G>A (p.Gly3271Ser) rs142422341
NM_000384.3(APOB):c.9883T>C (p.Tyr3295His) rs186299244
NM_174936.3(PCSK9):c.*1052C>T rs149837083
NM_174936.3(PCSK9):c.*1151del rs563024336
NM_174936.3(PCSK9):c.*1154C>A rs886046451
NM_174936.3(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.3(PCSK9):c.*1229G>T rs886046453
NM_174936.3(PCSK9):c.*122C>T rs751118819
NM_174936.3(PCSK9):c.*1255_*1258delAAAC rs368406783
NM_174936.3(PCSK9):c.*152G>T rs886046438
NM_174936.3(PCSK9):c.*207G>A rs780774423
NM_174936.3(PCSK9):c.*232C>T rs145330737
NM_174936.3(PCSK9):c.*234C>T rs182138201
NM_174936.3(PCSK9):c.*274C>A rs886046439
NM_174936.3(PCSK9):c.*28G>A rs189293781
NM_174936.3(PCSK9):c.*345C>T rs17111555
NM_174936.3(PCSK9):c.*404G>A rs886046440
NM_174936.3(PCSK9):c.*404G>C rs886046440
NM_174936.3(PCSK9):c.*414C>T rs13376071
NM_174936.3(PCSK9):c.*426C>A rs886046441
NM_174936.3(PCSK9):c.*444G>C rs28362288
NM_174936.3(PCSK9):c.*448dup rs72646533
NM_174936.3(PCSK9):c.*464C>A rs886046442
NM_174936.3(PCSK9):c.*470G>A rs886046443
NM_174936.3(PCSK9):c.*488C>A rs886046444
NM_174936.3(PCSK9):c.*509C>A rs886046445
NM_174936.3(PCSK9):c.*537del rs72646535
NM_174936.3(PCSK9):c.*548T>C rs886046446
NM_174936.3(PCSK9):c.*571C>T rs662145
NM_174936.3(PCSK9):c.*58A>G rs886046437
NM_174936.3(PCSK9):c.*614C>T rs17111557
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.*785C>A rs886046448
NM_174936.3(PCSK9):c.*78C>T rs757944328
NM_174936.3(PCSK9):c.*846G>T rs886046449
NM_174936.3(PCSK9):c.*849T>C rs28362292
NM_174936.3(PCSK9):c.*950C>T rs72646537
NM_174936.3(PCSK9):c.-180T>G rs886046431
NM_174936.3(PCSK9):c.-185A>G rs886046430
NM_174936.3(PCSK9):c.-200C>A rs886046429
NM_174936.3(PCSK9):c.-221T>G rs886046428
NM_174936.3(PCSK9):c.-237T>G rs886046427
NM_174936.3(PCSK9):c.-245G>C rs28362201
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-26G>A rs28362202
NM_174936.3(PCSK9):c.-346G>C rs886046426
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1332G>A (p.Leu444=) rs886046433
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.168C>T (p.Pro56=) rs763029049
NM_174936.3(PCSK9):c.1954A>G (p.Asn652Asp) rs201280059
NM_174936.3(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893
NM_174936.3(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080
NM_174936.3(PCSK9):c.2005G>A (p.Glu669Lys) rs886046435
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.399+4A>G rs376653409
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.799+3A>G rs2495477
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.996+8del rs768213924

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.