ClinVar Miner

List of variants studied for Familial hypobetalipoproteinemia by Illumina Laboratory Services, Illumina

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.*537del rs72646535 0.02413
NM_000384.3(APOB):c.3843C>T (p.Ser1281=) rs72653079 0.00240
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_000384.3(APOB):c.1470+15T>C rs185550846 0.00078
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_000384.3(APOB):c.2853G>A (p.Glu951=) rs151193347 0.00031
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_174936.4(PCSK9):c.*950C>T rs72646537 0.00022
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_000384.3(APOB):c.13183G>A (p.Gly4395Ser) rs151333262 0.00017
NM_000384.3(APOB):c.11466G>A (p.Val3822=) rs755842633 0.00011
NM_000384.3(APOB):c.11911G>A (p.Glu3971Lys) rs373477107 0.00009
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_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_000384.3(APOB):c.5913G>A (p.Leu1971=) rs374251542 0.00005
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
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.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000384.3(APOB):c.*207C>A rs886055566 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.12219C>T (p.Asn4073=) rs886055573 0.00001
NM_000384.3(APOB):c.12983A>G (p.Tyr4328Cys) rs886055572 0.00001
NM_000384.3(APOB):c.13601A>G (p.Tyr4534Cys) rs886055571 0.00001
NM_000384.3(APOB):c.4216+4A>G rs886055588 0.00001
NM_000384.3(APOB):c.12088-23dup rs751121092
NM_000384.3(APOB):c.2917C>A (p.Leu973Met) rs886055592
NM_000384.3(APOB):c.3595G>A (p.Asp1199Asn) rs375894411
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7405T>A (p.Phe2469Ile) rs768221258
NM_174936.3(PCSK9):c.-353G>T rs886046425
NM_174936.4(PCSK9):c.*1154C>A rs886046451
NM_174936.4(PCSK9):c.*1170_*1173dup rs377553033
NM_174936.4(PCSK9):c.*1229G>T rs886046453
NM_174936.4(PCSK9):c.*1247AAAC[2] rs368406783
NM_174936.4(PCSK9):c.*152G>T rs886046438
NM_174936.4(PCSK9):c.*274C>A rs886046439
NM_174936.4(PCSK9):c.*404G>A rs886046440
NM_174936.4(PCSK9):c.*404G>C rs886046440
NM_174936.4(PCSK9):c.*426C>A rs886046441
NM_174936.4(PCSK9):c.*448dup rs72646533
NM_174936.4(PCSK9):c.*464C>A rs886046442
NM_174936.4(PCSK9):c.*470G>A rs886046443
NM_174936.4(PCSK9):c.*488C>A rs886046444
NM_174936.4(PCSK9):c.*509C>A rs886046445
NM_174936.4(PCSK9):c.*58A>G rs886046437
NM_174936.4(PCSK9):c.*785C>A rs886046448
NM_174936.4(PCSK9):c.*78C>T rs757944328
NM_174936.4(PCSK9):c.*846G>T rs886046449
NM_174936.4(PCSK9):c.-180T>G rs886046431
NM_174936.4(PCSK9):c.-185A>G rs886046430
NM_174936.4(PCSK9):c.-200C>A rs886046429
NM_174936.4(PCSK9):c.-221T>G rs886046428
NM_174936.4(PCSK9):c.-237T>G rs886046427
NM_174936.4(PCSK9):c.1303_1304delinsTGGAACTGGTCCCCCAACTGGGTGGA (p.Val435delinsTrpAsnTrpSerProAsnTrpValGlu) rs886046432

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