ClinVar Miner

List of variants in gene PCSK9 reported as uncertain significance for Familial hypobetalipoproteinemia

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
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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