ClinVar Miner

List of variants in gene PCSK9 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
Download table as spreadsheet
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.658-36G>A rs11800265 0.03888
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.141C>T (p.Ser47=) rs28385701 0.00815
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.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.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.336G>A (p.Leu112=) rs79805678 0.00033
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_174936.4(PCSK9):c.1294G>A (p.Asp432Asn) rs72646515 0.00024
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.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.276G>A (p.Glu92=) rs147865087 0.00009
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 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.1300C>T (p.Arg434Trp) rs757143429 0.00006
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro) rs746115963 0.00006
NM_174936.4(PCSK9):c.1727C>T (p.Pro576Leu) rs72646525 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.939C>G (p.Thr313=) rs534113572 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.1228G>A (p.Glu410Lys) rs746085210 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.1791C>T (p.His597=) rs374856617 0.00004
NM_174936.4(PCSK9):c.1863+1G>A rs765335983 0.00004
NM_174936.4(PCSK9):c.290G>A (p.Arg97His) rs376385276 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
NM_174936.4(PCSK9):c.1548G>A (p.Gly516=) rs557227031 0.00003
NM_174936.4(PCSK9):c.1863+12C>T rs776658758 0.00003
NM_174936.4(PCSK9):c.1863+6G>A rs568853401 0.00003
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=) rs1316935112 0.00003
NM_174936.4(PCSK9):c.228C>T (p.Gly76=) rs376554821 0.00003
NM_174936.4(PCSK9):c.278G>A (p.Arg93His) rs763855534 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.2003G>T (p.Ser668Ile) rs1235101437 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val) rs376066497 0.00001
NM_174936.4(PCSK9):c.1192A>G (p.Met398Val) rs766010409 0.00001
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr) rs537114569 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.2004C>A (p.Ser668Arg) rs762298323 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_174936.4(PCSK9):c.812T>C (p.Ile271Thr) rs753657596 0.00001
NM_174936.4(PCSK9):c.960C>T (p.Asp320=) rs910368517 0.00001
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1212G>C (p.Pro404=) rs777470856
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala) rs555751342
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=) rs886046433
NM_174936.4(PCSK9):c.1354+12G>A
NM_174936.4(PCSK9):c.1356T>G (p.Gly452=) rs886038746
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1436C>T (p.Pro479Leu) rs2100326132
NM_174936.4(PCSK9):c.1461_1462del (p.Ser488fs)
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
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.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.1547G>A (p.Gly516Glu) rs891322948
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.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.173A>G (p.His58Arg) rs1644586889
NM_174936.4(PCSK9):c.1863+18G>T
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.2072T>G (p.Leu691Arg) rs748956735
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.240G>A (p.Val80=) rs2100266566
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp) rs771978846
NM_174936.4(PCSK9):c.399+6C>A
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_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.486C>G (p.Thr162=) rs886038747
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.524-13T>A
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs) rs755197912
NM_174936.4(PCSK9):c.573T>G (p.Ser191Arg)
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.593G>A (p.Gly198Asp) rs1053394659
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
NM_174936.4(PCSK9):c.85del (p.Arg29fs) rs1553135406

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.