ClinVar Miner

List of variants reported as uncertain significance for Hypobetalipoproteinemia by Illumina Laboratory Services, Illumina

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.*1052C>T rs149837083 0.00079
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_174936.4(PCSK9):c.*887C>T rs756500786 0.00059
NM_174936.4(PCSK9):c.*803G>A rs529378080 0.00053
NM_174936.4(PCSK9):c.*28G>A rs189293781 0.00048
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 0.00033
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_174936.4(PCSK9):c.-331C>A rs778796405 0.00026
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_174936.4(PCSK9):c.*368G>A rs151125363 0.00011
NM_174936.4(PCSK9):c.*122C>T rs751118819 0.00010
NM_174936.3(PCSK9):c.-346G>C rs886046426 0.00008
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_174936.4(PCSK9):c.*759G>A rs886046447 0.00007
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 0.00007
NM_174936.4(PCSK9):c.799+8A>G rs748933873 0.00007
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=) rs146924245 0.00006
NM_174936.4(PCSK9):c.658-9G>A rs757194881 0.00006
NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile) rs143291739 0.00005
NM_174936.4(PCSK9):c.*1085G>A rs886046450 0.00004
NM_174936.4(PCSK9):c.-140C>T rs574653669 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr) rs367606156 0.00004
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080 0.00004
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp) rs201280059 0.00003
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.1745G>A (p.Arg582Gln) rs745333538 0.00002
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=) rs886046436 0.00002
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser) rs200146448 0.00002
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1697G>C (p.Trp566Ser) rs886046434 0.00001
NM_174936.4(PCSK9):c.202G>A (p.Ala68Thr) rs778639605 0.00001
NM_174936.4(PCSK9):c.378G>A (p.Met126Ile) rs749928920 0.00001
NM_174936.4(PCSK9):c.612C>T (p.Asp204=) rs776649189 0.00001
NM_174936.4(PCSK9):c.955C>T (p.Arg319Trp) rs746442570 0.00001
NM_174936.4(PCSK9):c.*1093C>T rs1644788769
NM_174936.4(PCSK9):c.*179T>C rs1644781169
NM_174936.4(PCSK9):c.*207G>A rs780774423
NM_174936.4(PCSK9):c.*276C>T rs1570311846
NM_174936.4(PCSK9):c.*548T>C rs886046446
NM_174936.4(PCSK9):c.*666G>A rs762427407
NM_174936.4(PCSK9):c.-245G>C rs28362201
NM_174936.4(PCSK9):c.-68C>T rs1644583178
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=) rs886046433
NM_174936.4(PCSK9):c.1338C>T (p.Pro446=) rs1644730812
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1515C>A (p.Gly505=) rs1042826452
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.168C>T (p.Pro56=) rs763029049
NM_174936.4(PCSK9):c.1978G>A (p.Asp660Asn) rs72646530
NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys) rs886046435
NM_174936.4(PCSK9):c.85C>G (p.Arg29Gly) rs866597555

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