ClinVar Miner

List of variants in gene PCSK9 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 510
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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.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
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.705C>T (p.Ser235=) rs7552471 0.02435
NM_174936.4(PCSK9):c.1504-16C>T rs28362269 0.01510
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.1863+11C>G rs72646526 0.00543
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.1354+9G>T rs72646516 0.00337
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=) rs146960060 0.00289
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_174936.4(PCSK9):c.1681+17G>A rs200529774 0.00238
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_174936.4(PCSK9):c.225T>C (p.Pro75=) rs146563151 0.00191
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) rs72646508 0.00098
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn) rs146471967 0.00086
NM_174936.4(PCSK9):c.1929C>T (p.His643=) rs145770391 0.00084
NM_174936.4(PCSK9):c.1251C>A (p.His417Gln) rs143275858 0.00078
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00066
NM_174936.4(PCSK9):c.847C>A (p.Leu283Met) rs72646510 0.00055
NM_174936.4(PCSK9):c.657+7A>C rs72646506 0.00049
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.1504-7C>T rs72646520 0.00046
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
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_174936.3(PCSK9):c.-331C>A rs778796405 0.00026
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn) rs72646515 0.00024
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_174936.4(PCSK9):c.1682-20C>A rs372844138 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_174936.4(PCSK9):c.1980C>T (p.Asp660=) rs371914056 0.00018
NM_174936.4(PCSK9):c.1773C>G (p.His591Gln) rs529912877 0.00014
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) rs151193009 0.00014
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_174936.4(PCSK9):c.1355-16C>G rs28385713 0.00012
NM_174936.4(PCSK9):c.1646G>A (p.Arg549His) rs111400659 0.00011
NM_174936.4(PCSK9):c.384C>T (p.Gly128=) rs72646503 0.00011
NM_174936.4(PCSK9):c.892A>G (p.Asn298Asp) rs575003139 0.00011
NM_174936.4(PCSK9):c.276G>A (p.Glu92=) rs147865087 0.00009
NM_174936.4(PCSK9):c.267G>A (p.Ser89=) rs373551845 0.00008
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp) rs141593516 0.00008
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser) rs533273863 0.00008
NM_174936.4(PCSK9):c.1116C>T (p.Ser372=) rs1379493748 0.00007
NM_174936.4(PCSK9):c.1173C>T (p.His391=) rs149097297 0.00007
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 0.00007
NM_174936.4(PCSK9):c.1492G>A (p.Glu498Lys) rs145468572 0.00007
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val) rs370751343 0.00007
NM_174936.4(PCSK9):c.609C>T (p.Thr203=) rs200856421 0.00007
NM_174936.4(PCSK9):c.799+8A>G rs748933873 0.00007
NM_174936.4(PCSK9):c.1020T>C (p.Asn340=) rs769782435 0.00006
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=) rs146924245 0.00006
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp) rs757143429 0.00006
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro) rs746115963 0.00006
NM_174936.4(PCSK9):c.1464T>C (p.Ser488=) rs142229832 0.00006
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser) rs775521571 0.00006
NM_174936.4(PCSK9):c.1727C>T (p.Pro576Leu) rs72646525 0.00006
NM_174936.4(PCSK9):c.1848G>A (p.Pro616=) rs145264023 0.00006
NM_174936.4(PCSK9):c.1969A>G (p.Arg657Gly) rs767286042 0.00006
NM_174936.4(PCSK9):c.310C>T (p.Arg104Cys) rs369067856 0.00006
NM_174936.4(PCSK9):c.429C>T (p.Ile143=) rs368511429 0.00006
NM_174936.4(PCSK9):c.657+8C>T rs376502208 0.00006
NM_174936.4(PCSK9):c.658-9G>A rs757194881 0.00006
NM_174936.4(PCSK9):c.786C>T (p.Ser262=) rs763759839 0.00006
NM_174936.4(PCSK9):c.939C>G (p.Thr313=) rs534113572 0.00006
NM_174936.4(PCSK9):c.942T>C (p.Ala314=) rs1026609359 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr) rs1026987232 0.00005
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=) rs199815786 0.00005
NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile) rs143291739 0.00005
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) rs754143671 0.00005
NM_174936.4(PCSK9):c.1228G>A (p.Glu410Lys) rs746085210 0.00004
NM_174936.4(PCSK9):c.1240A>C (p.Arg414=) rs763406953 0.00004
NM_174936.4(PCSK9):c.126G>T (p.Val42=) rs374142123 0.00004
NM_174936.4(PCSK9):c.1355-12C>T rs28362267 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.1539C>T (p.Asn513=) rs781492750 0.00004
NM_174936.4(PCSK9):c.1605C>T (p.Ser535=) rs751405776 0.00004
NM_174936.4(PCSK9):c.1681+10T>C rs181296942 0.00004
NM_174936.4(PCSK9):c.1791C>T (p.His597=) rs374856617 0.00004
NM_174936.4(PCSK9):c.1792G>A (p.Ala598Thr) rs367606156 0.00004
NM_174936.4(PCSK9):c.1975C>T (p.Arg659Trp) rs147182054 0.00004
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080 0.00004
NM_174936.4(PCSK9):c.2013C>T (p.Ala671=) rs761714505 0.00004
NM_174936.4(PCSK9):c.2028C>T (p.Ala676=) rs142524469 0.00004
NM_174936.4(PCSK9):c.2050C>G (p.Leu684Val) rs201557607 0.00004
NM_174936.4(PCSK9):c.290G>A (p.Arg97His) rs376385276 0.00004
NM_174936.4(PCSK9):c.382G>A (p.Gly128Ser) rs766314770 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_174936.4(PCSK9):c.697G>T (p.Val233Leu) rs150169598 0.00004
NM_174936.4(PCSK9):c.717C>T (p.Ala239=) rs370145766 0.00004
NM_174936.4(PCSK9):c.742C>T (p.Arg248Cys) rs779824389 0.00004
NM_174936.4(PCSK9):c.752G>A (p.Arg251His) rs376945520 0.00004
NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser) rs757753730 0.00003
NM_174936.4(PCSK9):c.1432G>A (p.Ala478Thr) rs375582388 0.00003
NM_174936.4(PCSK9):c.1548G>A (p.Gly516=) rs557227031 0.00003
NM_174936.4(PCSK9):c.1563C>T (p.Tyr521=) rs771682043 0.00003
NM_174936.4(PCSK9):c.168C>G (p.Pro56=) rs763029049 0.00003
NM_174936.4(PCSK9):c.1863+12C>T rs776658758 0.00003
NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys) rs764653616 0.00003
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=) rs1316935112 0.00003
NM_174936.4(PCSK9):c.1948G>A (p.Val650Ile) rs767706622 0.00003
NM_174936.4(PCSK9):c.1954A>G (p.Asn652Asp) rs201280059 0.00003
NM_174936.4(PCSK9):c.208-16C>A rs927208593 0.00003
NM_174936.4(PCSK9):c.208-7G>A rs754232605 0.00003
NM_174936.4(PCSK9):c.228C>T (p.Gly76=) rs376554821 0.00003
NM_174936.4(PCSK9):c.234C>T (p.Tyr78=) rs779758641 0.00003
NM_174936.4(PCSK9):c.289C>T (p.Arg97Cys) rs140319509 0.00003
NM_174936.4(PCSK9):c.298G>A (p.Ala100Thr) rs564681731 0.00003
NM_174936.4(PCSK9):c.350G>A (p.Gly117Asp) rs761417131 0.00003
NM_174936.4(PCSK9):c.523+2dup rs773067887 0.00003
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521 0.00003
NM_174936.4(PCSK9):c.658-10C>T rs375695759 0.00003
NM_174936.4(PCSK9):c.721G>A (p.Val241Met) rs147478188 0.00003
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.10G>A (p.Val4Ile) rs186669805 0.00002
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=) rs139683719 0.00002
NM_174936.4(PCSK9):c.1270A>G (p.Ile424Val) rs759250273 0.00002
NM_174936.4(PCSK9):c.1503+13C>T rs753546185 0.00002
NM_174936.4(PCSK9):c.1510G>T (p.Gly504Trp) rs374455190 0.00002
NM_174936.4(PCSK9):c.1518G>A (p.Lys506=) rs903946804 0.00002
NM_174936.4(PCSK9):c.1671C>T (p.His557=) rs72646521 0.00002
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.1735C>T (p.Leu579=) rs751217094 0.00002
NM_174936.4(PCSK9):c.1863+20C>T rs760064829 0.00002
NM_174936.4(PCSK9):c.1915C>G (p.Pro639Ala) rs758249397 0.00002
NM_174936.4(PCSK9):c.1981G>A (p.Val661Ile) rs375541628 0.00002
NM_174936.4(PCSK9):c.1991C>T (p.Thr664Ile) rs369851423 0.00002
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=) rs886046436 0.00002
NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp) rs1426361407 0.00002
NM_174936.4(PCSK9):c.397C>T (p.Leu133=) rs377361152 0.00002
NM_174936.4(PCSK9):c.420C>T (p.Val140=) rs749630126 0.00002
NM_174936.4(PCSK9):c.616G>A (p.Glu206Lys) rs753857795 0.00002
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser) rs200146448 0.00002
NM_174936.4(PCSK9):c.885C>T (p.Arg295=) rs554884005 0.00002
NM_174936.4(PCSK9):c.9C>T (p.Thr3=) rs1465865735 0.00002
NM_174936.4(PCSK9):c.1004C>T (p.Thr335Ile) rs779246166 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1023C>T (p.Ala341=) rs1401778614 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.105C>T (p.Asp35=) rs533474523 0.00001
NM_174936.4(PCSK9):c.1071C>T (p.Arg357=) rs779288795 0.00001
NM_174936.4(PCSK9):c.1143A>G (p.Ser381=) rs910186653 0.00001
NM_174936.4(PCSK9):c.1181-6C>T rs1301884424 0.00001
NM_174936.4(PCSK9):c.118G>A (p.Glu40Lys) rs1416330878 0.00001
NM_174936.4(PCSK9):c.1273A>G (p.Asn425Asp) rs1644730027 0.00001
NM_174936.4(PCSK9):c.1310C>A (p.Thr437Asn) rs746134573 0.00001
NM_174936.4(PCSK9):c.1323G>A (p.Val441=) rs1365723695 0.00001
NM_174936.4(PCSK9):c.1371C>G (p.Cys457Trp) rs771108863 0.00001
NM_174936.4(PCSK9):c.1413C>T (p.Ala471=) rs1357691724 0.00001
NM_174936.4(PCSK9):c.1419C>T (p.Ala473=) rs775278198 0.00001
NM_174936.4(PCSK9):c.1422C>T (p.Val474=) rs373517174 0.00001
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr) rs773699134 0.00001
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys) rs761767572 0.00001
NM_174936.4(PCSK9):c.142G>A (p.Glu48Lys) rs1278890129 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1504-15G>A rs765073505 0.00001
NM_174936.4(PCSK9):c.1540G>A (p.Ala514Thr) rs1447116791 0.00001
NM_174936.4(PCSK9):c.1560C>T (p.Val520=) rs542863545 0.00001
NM_174936.4(PCSK9):c.1564G>A (p.Ala522Thr) rs777300852 0.00001
NM_174936.4(PCSK9):c.1606G>A (p.Val536Ile) rs776367625 0.00001
NM_174936.4(PCSK9):c.165A>T (p.Ala55=) rs1277316217 0.00001
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile) rs1277680499 0.00001
NM_174936.4(PCSK9):c.1686C>T (p.Cys562=) rs762083133 0.00001
NM_174936.4(PCSK9):c.1707G>A (p.Glu569=) rs766827854 0.00001
NM_174936.4(PCSK9):c.1728G>A (p.Pro576=) rs755272637 0.00001
NM_174936.4(PCSK9):c.1764C>T (p.Cys588=) rs368516937 0.00001
NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr) rs1245161747 0.00001
NM_174936.4(PCSK9):c.1812A>C (p.Pro604=) rs777190873 0.00001
NM_174936.4(PCSK9):c.1827A>G (p.Lys609=) rs765626863 0.00001
NM_174936.4(PCSK9):c.1839T>C (p.His613=) rs767139884 0.00001
NM_174936.4(PCSK9):c.186C>T (p.Ala62=) rs1359899317 0.00001
NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp) rs1261496250 0.00001
NM_174936.4(PCSK9):c.1945G>A (p.Ala649Thr) rs371744393 0.00001
NM_174936.4(PCSK9):c.1951G>T (p.Asp651Tyr) rs770716587 0.00001
NM_174936.4(PCSK9):c.198C>T (p.Arg66=) rs760439904 0.00001
NM_174936.4(PCSK9):c.1998C>A (p.Ser666Arg) rs745578045 0.00001
NM_174936.4(PCSK9):c.2014G>A (p.Val672Met) rs892210400 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
NM_174936.4(PCSK9):c.207+6G>C rs1306315743 0.00001
NM_174936.4(PCSK9):c.213G>A (p.Pro71=) rs1243883156 0.00001
NM_174936.4(PCSK9):c.246G>A (p.Leu82=) rs1570293864 0.00001
NM_174936.4(PCSK9):c.27C>T (p.Ser9=) rs562480265 0.00001
NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu) rs760558712 0.00001
NM_174936.4(PCSK9):c.400-7T>C rs866539996 0.00001
NM_174936.4(PCSK9):c.401C>A (p.Ala134Asp) rs781466793 0.00001
NM_174936.4(PCSK9):c.404T>C (p.Leu135Ser) rs745916051 0.00001
NM_174936.4(PCSK9):c.447C>T (p.Val149=) rs758997842 0.00001
NM_174936.4(PCSK9):c.464C>T (p.Pro155Leu) rs775429340 0.00001
NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp) rs200505188 0.00001
NM_174936.4(PCSK9):c.503C>T (p.Ala168Val) rs770592607 0.00001
NM_174936.4(PCSK9):c.523+13T>A rs1251178109 0.00001
NM_174936.4(PCSK9):c.524-12C>T rs769681001 0.00001
NM_174936.4(PCSK9):c.524-7T>C rs1430039188 0.00001
NM_174936.4(PCSK9):c.530G>A (p.Gly177Asp) rs368899514 0.00001
NM_174936.4(PCSK9):c.533G>A (p.Ser178Asn) rs755818478 0.00001
NM_174936.4(PCSK9):c.561C>A (p.Thr187=) rs955998985 0.00001
NM_174936.4(PCSK9):c.589G>A (p.Glu197Lys) rs772114791 0.00001
NM_174936.4(PCSK9):c.615C>T (p.Phe205=) rs759797943 0.00001
NM_174936.4(PCSK9):c.636C>T (p.Asp212=) rs757510932 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_174936.4(PCSK9):c.645C>T (p.Arg215=) rs754648024 0.00001
NM_174936.4(PCSK9):c.658-13G>A rs757913842 0.00001
NM_174936.4(PCSK9):c.658-6G>A rs745633457 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NM_174936.4(PCSK9):c.66C>T (p.Leu22=) rs926463199 0.00001
NM_174936.4(PCSK9):c.710G>A (p.Arg237Gln) rs758109994 0.00001
NM_174936.4(PCSK9):c.755del (p.Val252fs) rs779469742 0.00001
NM_174936.4(PCSK9):c.772A>G (p.Lys258Glu) rs771479424 0.00001
NM_174936.4(PCSK9):c.799+10G>C rs1007493174 0.00001
NM_174936.4(PCSK9):c.831C>G (p.Val277=) rs138038246 0.00001
NM_174936.4(PCSK9):c.839T>C (p.Val280Ala) rs1000735676 0.00001
NM_174936.4(PCSK9):c.869C>A (p.Ala290Glu) rs1354172136 0.00001
NM_174936.4(PCSK9):c.884G>A (p.Arg295His) rs775707869 0.00001
NM_174936.4(PCSK9):c.894C>T (p.Asn298=) rs1157271008 0.00001
NM_174936.4(PCSK9):c.914C>T (p.Ala305Val) rs1239236028 0.00001
NM_174936.4(PCSK9):c.936C>T (p.Val312=) rs752401519 0.00001
NM_174936.4(PCSK9):c.960C>T (p.Asp320=) rs910368517 0.00001
NM_174936.4(PCSK9):c.97G>A (p.Asp33Asn) rs917219621 0.00001
NC_000001.10:g.(?_55505511)_(55505737_?)dup
NC_000001.11:g.(?_55043823)_(55044054_?)del
NM_174936.4(PCSK9):c.1011G>T (p.Gly337=) rs746723269
NM_174936.4(PCSK9):c.1030C>T (p.Gln344Ter) rs72646513
NM_174936.4(PCSK9):c.1042C>T (p.Leu348=) rs750542221
NM_174936.4(PCSK9):c.106_111dup (p.Asp37_Tyr38insGlyAsp)
NM_174936.4(PCSK9):c.1089C>T (p.Ala363=)
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1099G>T (p.Asp367Tyr) rs141867978
NM_174936.4(PCSK9):c.1115C>T (p.Ser372Phe) rs2100320685
NM_174936.4(PCSK9):c.1120G>C (p.Asp374His) rs137852912
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.1130C>G (p.Thr377Ser) rs760947578
NM_174936.4(PCSK9):c.1131C>T (p.Thr377=) rs2100320831
NM_174936.4(PCSK9):c.1134C>T (p.Cys378=)
NM_174936.4(PCSK9):c.113A>G (p.Tyr38Cys)
NM_174936.4(PCSK9):c.1147A>C (p.Ser383Arg) rs1644724470
NM_174936.4(PCSK9):c.114C>T (p.Tyr38=)
NM_174936.4(PCSK9):c.1158A>C (p.Ser386=) rs2100320993
NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys) rs781590513
NM_174936.4(PCSK9):c.1180+16A>G
NM_174936.4(PCSK9):c.1180+19G>A
NM_174936.4(PCSK9):c.1180+8A>G
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1181-2A>G
NM_174936.4(PCSK9):c.1204G>T (p.Ala402Ser) rs533612423
NM_174936.4(PCSK9):c.1207G>A (p.Glu403Lys) rs778562344
NM_174936.4(PCSK9):c.120G>A (p.Glu40=)
NM_174936.4(PCSK9):c.1212G>T (p.Pro404=) rs777470856
NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala) rs555751342
NM_174936.4(PCSK9):c.1297C>T (p.Gln433Ter)
NM_174936.4(PCSK9):c.12C>T (p.Val4=)
NM_174936.4(PCSK9):c.1311C>A (p.Thr437=)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.1335C>T (p.Pro445=) rs1200168752
NM_174936.4(PCSK9):c.1351G>T (p.Ala451Ser) rs983143621
NM_174936.4(PCSK9):c.1354+12G>A
NM_174936.4(PCSK9):c.1355-6T>C
NM_174936.4(PCSK9):c.1356T>G (p.Gly452=) rs886038746
NM_174936.4(PCSK9):c.135G>A (p.Leu45=)
NM_174936.4(PCSK9):c.1371C>T (p.Cys457=) rs771108863
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1394C>G (p.Ser465Trp)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1404A>G (p.Thr468=) rs1378159870
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1416A>G (p.Thr472=)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1433C>T (p.Ala478Val)
NM_174936.4(PCSK9):c.1447C>G (p.Leu483Val) rs1570307690
NM_174936.4(PCSK9):c.1452G>A (p.Leu484=) rs755134162
NM_174936.4(PCSK9):c.147G>A (p.Glu49=) rs747002272
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu) rs143394031
NM_174936.4(PCSK9):c.1503+16C>T
NM_174936.4(PCSK9):c.1503+20GT[13]
NM_174936.4(PCSK9):c.1503+20GT[14] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[15] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[16] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[17] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[18] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[21] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[22] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[23] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[24] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[25] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[27] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[28] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[29] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[30] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[31]
NM_174936.4(PCSK9):c.1503+6_1503+15dup rs1449545218
NM_174936.4(PCSK9):c.1503+7G>C
NM_174936.4(PCSK9):c.1504-5C>G rs763241481
NM_174936.4(PCSK9):c.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.150C>T (p.Asp50=)
NM_174936.4(PCSK9):c.1518G>C (p.Lys506Asn) rs903946804
NM_174936.4(PCSK9):c.1519C>T (p.Leu507=)
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.4(PCSK9):c.154C>T (p.Leu52=)
NM_174936.4(PCSK9):c.1550G>T (p.Gly517Val) rs1182044412
NM_174936.4(PCSK9):c.1560C>A (p.Val520=)
NM_174936.4(PCSK9):c.156G>C (p.Leu52=) rs1231649101
NM_174936.4(PCSK9):c.156G>T (p.Leu52=) rs1231649101
NM_174936.4(PCSK9):c.1575G>A (p.Arg525=) rs2100330661
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1591C>T (p.Gln531Ter) rs1644743243
NM_174936.4(PCSK9):c.1593G>A (p.Gln531=)
NM_174936.4(PCSK9):c.1646G>T (p.Arg549Leu)
NM_174936.4(PCSK9):c.1656C>T (p.Cys552=) rs1177467649
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1668C>T (p.Gly556=) rs1570308726
NM_174936.4(PCSK9):c.1681+18C>T
NM_174936.4(PCSK9):c.1681+19C>T
NM_174936.4(PCSK9):c.1681+7G>A rs1200069101
NM_174936.4(PCSK9):c.1682-3dup rs749072203
NM_174936.4(PCSK9):c.1682-5C>T
NM_174936.4(PCSK9):c.1683C>G (p.Gly561=) rs2100336885
NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)
NM_174936.4(PCSK9):c.1699G>A (p.Glu567Lys)
NM_174936.4(PCSK9):c.1701G>A (p.Glu567=) rs1553138070
NM_174936.4(PCSK9):c.1716C>T (p.Gly572=)
NM_174936.4(PCSK9):c.1731T>C (p.Pro577=)
NM_174936.4(PCSK9):c.175G>A (p.Gly59Arg) rs1060500657
NM_174936.4(PCSK9):c.1792G>T (p.Ala598Ser) rs367606156
NM_174936.4(PCSK9):c.1809C>G (p.Ala603=)
NM_174936.4(PCSK9):c.1809C>T (p.Ala603=) rs766879196
NM_174936.4(PCSK9):c.1824C>T (p.Cys608=)
NM_174936.4(PCSK9):c.1837C>A (p.His613Asn) rs1644758908
NM_174936.4(PCSK9):c.1848G>C (p.Pro616=)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1858G>A (p.Glu620Lys) rs1060500656
NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp) rs886039839
NM_174936.4(PCSK9):c.1860G>A (p.Glu620=) rs1570310183
NM_174936.4(PCSK9):c.1863+11C>T
NM_174936.4(PCSK9):c.1863+13G>A
NM_174936.4(PCSK9):c.1863+13G>T
NM_174936.4(PCSK9):c.1864-14T>G
NM_174936.4(PCSK9):c.1864-5G>C rs1644776869
NM_174936.4(PCSK9):c.1875C>A (p.Ala625=) rs2100343161
NM_174936.4(PCSK9):c.1879G>A (p.Glu627Lys)
NM_174936.4(PCSK9):c.187A>G (p.Thr63Ala)
NM_174936.4(PCSK9):c.1893C>A (p.Thr631=)
NM_174936.4(PCSK9):c.189del (p.Phe64fs)
NM_174936.4(PCSK9):c.1902C>G (p.Gly634=)
NM_174936.4(PCSK9):c.1918G>C (p.Gly640Arg)
NM_174936.4(PCSK9):c.1920G>T (p.Gly640=) rs1060500658
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.195C>T (p.His65=)
NM_174936.4(PCSK9):c.196C>A (p.Arg66Ser)
NM_174936.4(PCSK9):c.1978G>A (p.Asp660Asn) rs72646530
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.197_198delinsAA (p.Arg66Gln) rs1644587150
NM_174936.4(PCSK9):c.1987A>G (p.Thr663Ala) rs1325251210
NM_174936.4(PCSK9):c.1992A>T (p.Thr664=) rs1570311492
NM_174936.4(PCSK9):c.2004C>T (p.Ser668=)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.2016G>C (p.Val672=)
NM_174936.4(PCSK9):c.2037C>T (p.Cys679=)
NM_174936.4(PCSK9):c.203C>T (p.Ala68Val) rs2100253083
NM_174936.4(PCSK9):c.2054C>T (p.Ala685Val)
NM_174936.4(PCSK9):c.2055G>A (p.Ala685=) rs1490853919
NM_174936.4(PCSK9):c.2059G>C (p.Ala687Pro)
NM_174936.4(PCSK9):c.2066A>T (p.Gln689Leu) rs2100344811
NM_174936.4(PCSK9):c.207+14_207+15delinsAG
NM_174936.4(PCSK9):c.207+15A>T
NM_174936.4(PCSK9):c.207+9G>A
NM_174936.4(PCSK9):c.208-10A>G rs761104090
NM_174936.4(PCSK9):c.208-13T>G rs2100266261
NM_174936.4(PCSK9):c.208-6G>A rs2100266306
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.21G>A (p.Arg7=) rs2100250570
NM_174936.4(PCSK9):c.237G>A (p.Val79=)
NM_174936.4(PCSK9):c.238del (p.Val80fs) rs1644614862
NM_174936.4(PCSK9):c.23G>A (p.Arg8Gln)
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp) rs771978846
NM_174936.4(PCSK9):c.27C>G (p.Ser9=) rs562480265
NM_174936.4(PCSK9):c.285C>T (p.Ala95=)
NM_174936.4(PCSK9):c.287G>A (p.Arg96His) rs766999045
NM_174936.4(PCSK9):c.309C>T (p.Ala103=)
NM_174936.4(PCSK9):c.315G>A (p.Arg105=)
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg) rs2100267180
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg) rs1021372164
NM_174936.4(PCSK9):c.348T>C (p.His116=) rs1021107715
NM_174936.4(PCSK9):c.351C>T (p.Gly117=) rs1644616384
NM_174936.4(PCSK9):c.369G>A (p.Leu123=)
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.4(PCSK9):c.381T>G (p.Ser127Arg)
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.386A>G (p.Asp129Gly) rs1553135971
NM_174936.4(PCSK9):c.387C>T (p.Asp129=) rs1644616734
NM_174936.4(PCSK9):c.396G>A (p.Glu132=)
NM_174936.4(PCSK9):c.399+10C>G
NM_174936.4(PCSK9):c.399+10C>T rs112710386
NM_174936.4(PCSK9):c.399+11C>A
NM_174936.4(PCSK9):c.399+11del
NM_174936.4(PCSK9):c.399+18G>T
NM_174936.4(PCSK9):c.399+6C>A
NM_174936.4(PCSK9):c.400-13C>T
NM_174936.4(PCSK9):c.400-15C>T rs1644635525
NM_174936.4(PCSK9):c.411G>A (p.Leu137=)
NM_174936.4(PCSK9):c.412C>T (p.Pro138Ser) rs780564433
NM_174936.4(PCSK9):c.424T>C (p.Tyr142His)
NM_174936.4(PCSK9):c.42_50del (p.Leu21_Leu23del) rs1644584450
NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)
NM_174936.4(PCSK9):c.441C>T (p.Ser147=)
NM_174936.4(PCSK9):c.453C>T (p.Ala151=) rs2100276152
NM_174936.4(PCSK9):c.456G>A (p.Gln152=) rs1305635836
NM_174936.4(PCSK9):c.456G>C (p.Gln152His)
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[5] (p.Leu22_Leu23del) rs35574083
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.465G>A (p.Pro155=) rs762792417
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln) rs372165281
NM_174936.4(PCSK9):c.494G>T (p.Arg165Leu) rs372165281
NM_174936.4(PCSK9):c.501G>A (p.Arg167=) rs748481228
NM_174936.4(PCSK9):c.516G>A (p.Gln172=)
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.523+16G>A
NM_174936.4(PCSK9):c.523+9C>T
NM_174936.4(PCSK9):c.524-13T>A
NM_174936.4(PCSK9):c.524-18A>G
NM_174936.4(PCSK9):c.524-3A>C rs765777205
NM_174936.4(PCSK9):c.524-9del rs751658486
NM_174936.4(PCSK9):c.546G>A (p.Val182=)
NM_174936.4(PCSK9):c.553C>G (p.Leu185Val)
NM_174936.4(PCSK9):c.554_558del (p.Leu185fs) rs1644680378
NM_174936.4(PCSK9):c.555A>G (p.Leu185=)
NM_174936.4(PCSK9):c.57G>C (p.Leu19=)
NM_174936.4(PCSK9):c.580C>A (p.Arg194=) rs200027662
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp) rs200027662
NM_174936.4(PCSK9):c.588C>A (p.Ile196=)
NM_174936.4(PCSK9):c.588C>T (p.Ile196=) rs762910129
NM_174936.4(PCSK9):c.591G>A (p.Glu197=) rs1436739095
NM_174936.4(PCSK9):c.599T>C (p.Val200Ala)
NM_174936.4(PCSK9):c.618G>A (p.Glu206=)
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly) rs1278078294
NM_174936.4(PCSK9):c.653G>A (p.Arg218Lys)
NM_174936.4(PCSK9):c.653G>C (p.Arg218Thr) rs1644681544
NM_174936.4(PCSK9):c.654A>G (p.Arg218=) rs970575319
NM_174936.4(PCSK9):c.654A>T (p.Arg218Ser) rs970575319
NM_174936.4(PCSK9):c.657+12C>T
NM_174936.4(PCSK9):c.657+18A>G
NM_174936.4(PCSK9):c.658-10C>G rs375695759
NM_174936.4(PCSK9):c.658-11T>A
NM_174936.4(PCSK9):c.658-6G>T rs745633457
NM_174936.4(PCSK9):c.658-8T>C rs1570301527
NM_174936.4(PCSK9):c.65_66insGCTCCT (p.Leu23_Gly24insLeuLeu)
NM_174936.4(PCSK9):c.693A>G (p.Ala231=) rs1644684348
NM_174936.4(PCSK9):c.699G>T (p.Val233=) rs72646507
NM_174936.4(PCSK9):c.720C>A (p.Gly240=)
NM_174936.4(PCSK9):c.75C>T (p.Pro25=)
NM_174936.4(PCSK9):c.762C>T (p.Asn254=) rs915006256
NM_174936.4(PCSK9):c.780G>A (p.Thr260=) rs1397743766
NM_174936.4(PCSK9):c.792C>T (p.Thr264=) rs750429847
NM_174936.4(PCSK9):c.799+11G>A
NM_174936.4(PCSK9):c.799+15C>T
NM_174936.4(PCSK9):c.799+20G>A
NM_174936.4(PCSK9):c.799+5del rs2100299786
NM_174936.4(PCSK9):c.800-17G>A
NM_174936.4(PCSK9):c.800-17G>T rs200551844
NM_174936.4(PCSK9):c.810T>C (p.Phe270=)
NM_174936.4(PCSK9):c.819A>C (p.Lys273Asn)
NM_174936.4(PCSK9):c.864C>T (p.Pro288=)
NM_174936.4(PCSK9):c.86G>A (p.Arg29His)
NM_174936.4(PCSK9):c.873T>G (p.Gly291=) rs1570304999
NM_174936.4(PCSK9):c.876G>T (p.Gly292=) rs1012650815
NM_174936.4(PCSK9):c.897C>T (p.Ala299=) rs1644711792
NM_174936.4(PCSK9):c.8C>A (p.Thr3Asn) rs966100677
NM_174936.4(PCSK9):c.915G>A (p.Ala305=)
NM_174936.4(PCSK9):c.939C>T (p.Thr313=) rs534113572
NM_174936.4(PCSK9):c.946G>A (p.Gly316Ser) rs554488891
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
NM_174936.4(PCSK9):c.956G>A (p.Arg319Gln) rs1644712458
NM_174936.4(PCSK9):c.957G>A (p.Arg319=)
NM_174936.4(PCSK9):c.95AGGACG[3] (p.32ED[3]) rs746705490
NM_174936.4(PCSK9):c.96G>A (p.Glu32=) rs1291205662
NM_174936.4(PCSK9):c.984C>T (p.Ala328=)
NM_174936.4(PCSK9):c.995A>G (p.Glu332Gly)
NM_174936.4(PCSK9):c.996+4G>A
NM_174936.4(PCSK9):c.997-12T>A rs1644722615
NM_174936.4(PCSK9):c.997-16C>T

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