ClinVar Miner

List of variants reported as uncertain significance for Hyperlipoproteinemia, type I

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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000237.3(LPL):c.-283G>T rs80351041 0.00790
NM_000237.3(LPL):c.*1886G>A rs147116359 0.00431
NM_000237.3(LPL):c.*1414C>T rs192714638 0.00142
NM_000237.3(LPL):c.1136C>T (p.Thr379Ile) rs76708715 0.00133
NM_000237.3(LPL):c.-71C>G rs559590399 0.00092
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575 0.00088
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245 0.00066
NM_000237.3(LPL):c.*648A>T rs137854869 0.00036
NM_000237.3(LPL):c.*1824T>C rs537986804 0.00029
NM_000237.3(LPL):c.*1793G>A rs767981135 0.00027
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000237.3(LPL):c.687T>C (p.His229=) rs45607438 0.00022
NM_000237.3(LPL):c.*729A>G rs575395509 0.00021
NM_000237.3(LPL):c.189C>T (p.Ser63=) rs114726797 0.00021
NM_000237.3(LPL):c.*309A>T rs886062794 0.00016
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000237.3(LPL):c.*1854T>C rs993837734 0.00014
NM_000237.3(LPL):c.*846G>C rs886062798 0.00014
NM_000237.3(LPL):c.*1660G>A rs562346489 0.00013
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532 0.00013
NM_000237.3(LPL):c.*1399G>A rs866715736 0.00011
NM_000237.3(LPL):c.*1563_*1567del rs756539526 0.00010
NM_000237.3(LPL):c.*1159C>T rs140767506 0.00009
NM_000237.3(LPL):c.*831G>A rs11570896 0.00009
NM_000237.3(LPL):c.*547T>C rs995558109 0.00008
NM_000237.3(LPL):c.134C>A (p.Thr45Asn) rs143944126 0.00008
NM_000237.3(LPL):c.*221C>T rs761203901 0.00007
NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) rs139282874 0.00007
NM_000237.3(LPL):c.111C>T (p.Ile37=) rs374067507 0.00006
NM_000237.3(LPL):c.*1308G>C rs373828745 0.00004
NM_000237.3(LPL):c.*1743G>A rs1186129642 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000237.3(LPL):c.190G>A (p.Val64Met) rs114101772 0.00003
NM_000237.3(LPL):c.439A>C (p.Asn147His) rs747222264 0.00003
NM_000237.3(LPL):c.249G>A (p.Thr83=) rs544872445 0.00002
NM_000237.2(LPL):c.-299T>G rs886062783 0.00001
NM_000237.3(LPL):c.*1048A>C rs1200033112 0.00001
NM_000237.3(LPL):c.*135C>A rs1456891629 0.00001
NM_000237.3(LPL):c.*1749T>C rs531898209 0.00001
NM_000237.3(LPL):c.*677T>C rs886062796 0.00001
NM_000237.3(LPL):c.-101C>T rs1388541862 0.00001
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) rs772132247 0.00001
NM_000237.3(LPL):c.1207C>T (p.Leu403Phe) rs1156454170 0.00001
NM_000237.3(LPL):c.1272C>T (p.Pro424=) rs200852756 0.00001
NM_000237.3(LPL):c.1344G>A (p.Glu448=) rs143110734 0.00001
NM_000237.3(LPL):c.1373C>T (p.Ala458Val) rs140236957 0.00001
NM_000237.3(LPL):c.1401C>A (p.Asp467Glu) rs769944419 0.00001
NM_000237.3(LPL):c.313G>A (p.Asp105Asn) rs1271941649 0.00001
NM_000237.3(LPL):c.36C>A (p.Ala12=) rs780030692 0.00001
NM_000237.3(LPL):c.501T>C (p.Ile167=) rs1425981651 0.00001
NM_000237.3(LPL):c.648C>T (p.Ser216=) rs140457997 0.00001
NM_000237.3(LPL):c.81C>A (p.Ala27=) rs764871141 0.00001
NM_001371904.1(APOA5):c.494G>C (p.Gly165Ala) rs1246031494 0.00001
NM_000237.3(LPL):c.*1039G>A rs558781321
NM_000237.3(LPL):c.*1214G>T rs886062800
NM_000237.3(LPL):c.*1279G>A rs886062801
NM_000237.3(LPL):c.*1373G>A rs188947767
NM_000237.3(LPL):c.*1394A>C rs1590151766
NM_000237.3(LPL):c.*1547T>A rs2070094189
NM_000237.3(LPL):c.*1788T>C rs894550368
NM_000237.3(LPL):c.*1797G>A rs552256660
NM_000237.3(LPL):c.*1891T>C rs2070097434
NM_000237.3(LPL):c.*222A>C rs886062791
NM_000237.3(LPL):c.*262G>A rs886062792
NM_000237.3(LPL):c.*290_*293del rs886062793
NM_000237.3(LPL):c.*389C>G rs566726236
NM_000237.3(LPL):c.*414_*418del rs374509929
NM_000237.3(LPL):c.*455C>A rs538947347
NM_000237.3(LPL):c.*544A>G rs886062795
NM_000237.3(LPL):c.*824dup rs886062797
NM_000237.3(LPL):c.*884A>C rs886062799
NM_000237.3(LPL):c.*8C>T rs765034981
NM_000237.3(LPL):c.*903C>T rs2070088031
NM_000237.3(LPL):c.-136T>C rs886062785
NM_000237.3(LPL):c.-172_-171dup rs146978295
NM_000237.3(LPL):c.-38C>G rs886062787
NM_000237.3(LPL):c.-49C>T rs886062786
NM_000237.3(LPL):c.1234G>A (p.Asp412Asn) rs541991367
NM_000237.3(LPL):c.132G>T (p.Arg44Ser) rs2069900707
NM_000237.3(LPL):c.1394G>C (p.Cys465Ser) rs2128839829
NM_000237.3(LPL):c.1416_1417insT (p.Lys473Ter) rs886062790
NM_000237.3(LPL):c.1427+15C>A rs758248912
NM_000237.3(LPL):c.260T>C (p.Met87Thr) rs886062788
NM_000237.3(LPL):c.276G>A (p.Val92=) rs551959021
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.333G>T (p.Val111=) rs749390229
NM_000237.3(LPL):c.478C>T (p.Leu160Phe) rs886062789
NM_000237.3(LPL):c.487C>T (p.His163Tyr) rs2069951773
NM_000237.3(LPL):c.550C>T (p.Pro184Ser)
NM_000237.3(LPL):c.59C>T (p.Ala20Val) rs572477224
NM_000237.3(LPL):c.84C>G (p.Ala28=) rs1387718651
NM_000237.3(LPL):c.88+3A>C

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