ClinVar Miner

List of variants reported as uncertain significance for Familial hypobetalipoproteinemia

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ClinVar version:
Total variants: 152
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HGVS dbSNP
NM_000384.3(APOB):c.*179C>T rs142151703
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.1075A>G (p.Ser359Gly) rs757383498
NM_000384.3(APOB):c.10882A>T (p.Asn3628Tyr) rs141982176
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.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.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.12219C>T (p.Asn4073=) rs886055573
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.12807T>C (p.Tyr4269=) rs181340304
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.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.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.2160C>T (p.Tyr720=) rs756184175
NM_000384.3(APOB):c.2170G>T (p.Gly724Cys) rs143425834
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.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.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.3509-11C>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.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.400G>T (p.Ala134Ser) rs368321279
NM_000384.3(APOB):c.4143C>A (p.Asp1381Glu) rs754597311
NM_000384.3(APOB):c.4216+4A>G rs886055588
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.5490C>G (p.Ala1830=) rs886055585
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.5913G>A (p.Leu1971=) rs374251542
NM_000384.3(APOB):c.602C>T (p.Thr201Ile) rs886055594
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295
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.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.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.8231C>T (p.Pro2744Leu) rs886055582
NM_000384.3(APOB):c.83-11C>T rs372452800
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.9202A>G (p.Ile3068Val) rs778492524
NM_000384.3(APOB):c.9294C>T (p.Tyr3098=) rs145777339
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.*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.*404G>A rs886046440
NM_174936.3(PCSK9):c.*404G>C rs886046440
NM_174936.3(PCSK9):c.*426C>A rs886046441
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.*548T>C rs886046446
NM_174936.3(PCSK9):c.*58A>G rs886046437
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.*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.-346G>C rs886046426
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.3(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432
NM_174936.3(PCSK9):c.1332G>A (p.Leu444=) rs886046433
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.399+4A>G rs376653409
NM_174936.3(PCSK9):c.627C>T (p.Pro209=) rs375892354
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

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