ClinVar Miner

List of variants studied for Hypobetalipoproteinemia by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.4(PCSK9):c.*571C>T rs662145 0.67233
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.*614C>T rs17111557 0.03123
NM_174936.4(PCSK9):c.*414C>T rs13376071 0.03076
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_174936.4(PCSK9):c.*345C>T rs17111555 0.02424
NM_174936.4(PCSK9):c.*75C>T rs28362287 0.02377
NM_174936.4(PCSK9):c.*444G>C rs28362288 0.01963
NM_174936.4(PCSK9):c.*849T>C rs28362292 0.01415
NM_174936.4(PCSK9):c.-287G>A rs72658888 0.00941
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_174936.4(PCSK9):c.-26G>A rs28362202 0.00715
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=) rs28362268 0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_174936.4(PCSK9):c.*171C>T rs557622245 0.00459
NM_174936.4(PCSK9):c.*234C>T rs182138201 0.00375
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_174936.4(PCSK9):c.*843G>A rs28362291 0.00287
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_174936.4(PCSK9):c.1929C>T (p.His643=) rs145770391 0.00084
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.*232C>T rs145330737 0.00048
NM_174936.4(PCSK9):c.*28G>A rs189293781 0.00048
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00033
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 0.00033
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 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.1384T>C (p.Ser462Pro) rs746115963 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.1270A>G (p.Ile424Val) rs759250273 0.00002
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_000384.3(APOB):c.7600C>T (p.Arg2534Ter) rs145143533 0.00001
NM_174936.4(PCSK9):c.*265C>T rs368297335 0.00001
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.1560C>T (p.Val520=) rs542863545 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.-245G>T rs28362201
NM_174936.4(PCSK9):c.-68C>T rs1644583178
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
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.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
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.158C>T (p.Ala53Val)
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.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.85C>G (p.Arg29Gly) rs866597555

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