ClinVar Miner

List of variants reported as uncertain significance for hyperlipoproteinemia by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 793
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_174936.4(PCSK9):c.1773C>G (p.His591Gln) rs529912877 0.00014
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) rs730882107 0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) rs769247787 0.00008
NM_174936.4(PCSK9):c.207+5G>A rs1272703401 0.00008
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 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_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 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_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 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.166C>T (p.Pro56Ser) rs775521571 0.00006
NM_174936.4(PCSK9):c.1969A>G (p.Arg657Gly) rs767286042 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_174936.4(PCSK9):c.471C>A (p.Asn157Lys) rs143117125 0.00006
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 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_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) rs137852912 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.1975C>T (p.Arg659Trp) rs147182054 0.00004
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080 0.00004
NM_174936.4(PCSK9):c.2050C>G (p.Leu684Val) rs201557607 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_174936.4(PCSK9):c.581G>A (p.Arg194Gln) rs748155397 0.00004
NM_174936.4(PCSK9):c.697G>T (p.Val233Leu) rs150169598 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.814C>T (p.Arg272Trp) rs754744118 0.00004
NM_174936.4(PCSK9):c.829G>C (p.Val277Leu) rs562011178 0.00004
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) rs377449975 0.00003
NM_000527.5(LDLR):c.2323G>A (p.Val775Ile) rs199766976 0.00003
NM_000527.5(LDLR):c.2359G>A (p.Val787Met) rs143771219 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.2546C>T (p.Ser849Leu) rs377437226 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_174936.4(PCSK9):c.106G>A (p.Gly36Ser) rs757753730 0.00003
NM_174936.4(PCSK9):c.1756A>G (p.Asn586Asp) rs146035580 0.00003
NM_174936.4(PCSK9):c.1882G>A (p.Glu628Lys) rs764653616 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.266C>T (p.Ser89Leu) rs771978846 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.610G>A (p.Asp204Asn) rs793888521 0.00003
NM_174936.4(PCSK9):c.721G>A (p.Val241Met) rs147478188 0.00003
NM_174936.4(PCSK9):c.754G>A (p.Val252Met) rs149139428 0.00003
NC_000019.10:g.11089396C>T rs879254366 0.00002
NC_000019.10:g.11089410C>G rs879254371 0.00002
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln) rs875989914 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1138G>A (p.Glu380Lys) rs983617416 0.00002
NM_000527.5(LDLR):c.1162C>A (p.His388Asn) rs764551797 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr) rs764542721 0.00002
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) rs149237737 0.00002
NM_000527.5(LDLR):c.2307C>G (p.His769Gln) rs760479588 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.395G>A (p.Arg132Gln) rs751519676 0.00002
NM_000527.5(LDLR):c.608A>G (p.His203Arg) rs774600508 0.00002
NM_000527.5(LDLR):c.64G>T (p.Ala22Ser) rs942568624 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.988A>C (p.Asn330His) rs730882095 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.1250A>G (p.His417Arg) rs769163891 0.00002
NM_174936.4(PCSK9):c.1303G>T (p.Val435Leu) rs780948835 0.00002
NM_174936.4(PCSK9):c.1483C>T (p.Arg495Trp) rs758999339 0.00002
NM_174936.4(PCSK9):c.1510G>T (p.Gly504Trp) rs374455190 0.00002
NM_174936.4(PCSK9):c.1621C>T (p.Pro541Ser) rs369996097 0.00002
NM_174936.4(PCSK9):c.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.1915C>G (p.Pro639Ala) rs758249397 0.00002
NM_174936.4(PCSK9):c.1960T>C (p.Cys654Arg) rs762968029 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.2003G>T (p.Ser668Ile) rs1235101437 0.00002
NM_174936.4(PCSK9):c.22C>T (p.Arg8Trp) rs1426361407 0.00002
NM_174936.4(PCSK9):c.526G>A (p.Gly176Arg) rs141135099 0.00002
NM_174936.4(PCSK9):c.616G>A (p.Glu206Lys) rs753857795 0.00002
NM_174936.4(PCSK9):c.706G>A (p.Gly236Ser) rs149489325 0.00002
NC_000019.10:g.11089358C>A rs934415028 0.00001
NC_000019.10:g.11089429C>T rs875989886 0.00001
NC_000019.10:g.11089434T>G rs1164871419 0.00001
NC_000019.10:g.11089447A>G rs1357531646 0.00001
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 0.00001
NM_000527.5(LDLR):c.1065C>G (p.Ile355Met) rs960032925 0.00001
NM_000527.5(LDLR):c.1105G>A (p.Val369Met) rs730882097 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.118A>G (p.Ile40Val) rs765969972 0.00001
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) rs1225797407 0.00001
NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) rs375651668 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) rs750363970 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 0.00001
NM_000527.5(LDLR):c.153G>C (p.Glu51Asp) rs772188884 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn) rs757672647 0.00001
NM_000527.5(LDLR):c.1957G>A (p.Val653Ile) rs879255085 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2239C>A (p.Pro747Thr) rs1484331319 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.2416G>T (p.Val806Phe) rs745429866 0.00001
NM_000527.5(LDLR):c.242G>A (p.Arg81His) rs1299591218 0.00001
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 0.00001
NM_000527.5(LDLR):c.286G>A (p.Asp96Asn) rs774858755 0.00001
NM_000527.5(LDLR):c.314C>T (p.Pro105Leu) rs730882079 0.00001
NM_000527.5(LDLR):c.392A>G (p.Asp131Gly) rs730882081 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.508G>A (p.Asp170Asn) rs139089530 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.572A>C (p.Gln191Pro) rs1423948022 0.00001
NM_000527.5(LDLR):c.584G>A (p.Ser195Asn) rs879254583 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.694G>A (p.Ala232Thr) rs72658857 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_000527.5(LDLR):c.790A>C (p.Met264Leu) rs730882088 0.00001
NM_000527.5(LDLR):c.817+5G>C rs770636985 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.892A>G (p.Met298Val) rs730882092 0.00001
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.940+4A>C rs768247312 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.1148G>A (p.Ser383Asn) rs942292612 0.00001
NM_174936.4(PCSK9):c.1169C>T (p.Ala390Val) rs1313288327 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.1211C>T (p.Pro404Leu) rs140072072 0.00001
NM_174936.4(PCSK9):c.1273A>G (p.Asn425Asp) rs1644730027 0.00001
NM_174936.4(PCSK9):c.1276G>A (p.Glu426Lys) rs1207777134 0.00001
NM_174936.4(PCSK9):c.1310C>A (p.Thr437Asn) rs746134573 0.00001
NM_174936.4(PCSK9):c.1334C>T (p.Pro445Leu) rs769060209 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.1475G>C (p.Ser492Thr) rs537114569 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=) rs986151799 0.00001
NM_174936.4(PCSK9):c.1528C>T (p.Arg510Trp) rs751649334 0.00001
NM_174936.4(PCSK9):c.1564G>A (p.Ala522Thr) rs777300852 0.00001
NM_174936.4(PCSK9):c.1643C>A (p.Thr548Asn) rs368156218 0.00001
NM_174936.4(PCSK9):c.1645C>T (p.Arg549Cys) rs763298843 0.00001
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile) rs1277680499 0.00001
NM_174936.4(PCSK9):c.1690T>G (p.Ser564Ala) rs1263043577 0.00001
NM_174936.4(PCSK9):c.1696T>C (p.Trp566Arg) rs111563724 0.00001
NM_174936.4(PCSK9):c.1697G>C (p.Trp566Ser) rs886046434 0.00001
NM_174936.4(PCSK9):c.1765G>A (p.Val589Met) rs372586224 0.00001
NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr) rs1245161747 0.00001
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp) rs754936553 0.00001
NM_174936.4(PCSK9):c.1867A>G (p.Thr623Ala) rs769112641 0.00001
NM_174936.4(PCSK9):c.1870G>A (p.Val624Met) rs760437822 0.00001
NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp) rs1261496250 0.00001
NM_174936.4(PCSK9):c.1939G>T (p.Ala647Ser) rs141438059 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.2004C>A (p.Ser668Arg) rs762298323 0.00001
NM_174936.4(PCSK9):c.2014G>A (p.Val672Met) rs892210400 0.00001
NM_174936.4(PCSK9):c.2023del (p.Val675fs) rs772102827 0.00001
NM_174936.4(PCSK9):c.2065C>T (p.Gln689Ter) rs769487037 0.00001
NM_174936.4(PCSK9):c.219G>T (p.Arg73Ser) rs376944580 0.00001
NM_174936.4(PCSK9):c.253G>A (p.Glu85Lys) rs774506287 0.00001
NM_174936.4(PCSK9):c.2T>G (p.Met1Arg) rs1209186979 0.00001
NM_174936.4(PCSK9):c.313C>T (p.Arg105Trp) rs747072726 0.00001
NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr) rs968023760 0.00001
NM_174936.4(PCSK9):c.35C>T (p.Pro12Leu) rs760558712 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.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.517C>T (p.Pro173Ser) rs1346692733 0.00001
NM_174936.4(PCSK9):c.529G>T (p.Gly177Cys) rs778157885 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.592G>A (p.Gly198Ser) rs764087262 0.00001
NM_174936.4(PCSK9):c.628G>A (p.Glu210Lys) rs1302868036 0.00001
NM_174936.4(PCSK9):c.637G>A (p.Gly213Arg) rs267598661 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser) rs1479030404 0.00001
NM_174936.4(PCSK9):c.710G>A (p.Arg237Gln) rs758109994 0.00001
NM_174936.4(PCSK9):c.718G>A (p.Gly240Ser) rs751048732 0.00001
NM_174936.4(PCSK9):c.743G>A (p.Arg248His) rs749573024 0.00001
NM_174936.4(PCSK9):c.747C>A (p.Ser249Arg) rs768846693 0.00001
NM_174936.4(PCSK9):c.751C>T (p.Arg251Cys) rs778900671 0.00001
NM_174936.4(PCSK9):c.779C>T (p.Thr260Met) rs777111934 0.00001
NM_174936.4(PCSK9):c.77C>T (p.Ala26Val) rs1413443246 0.00001
NM_174936.4(PCSK9):c.839T>C (p.Val280Ala) rs1000735676 0.00001
NM_174936.4(PCSK9):c.884G>A (p.Arg295His) rs775707869 0.00001
NM_174936.4(PCSK9):c.886G>A (p.Val296Ile) rs771594920 0.00001
NM_174936.4(PCSK9):c.905A>G (p.Gln302Arg) rs759388119 0.00001
NM_174936.4(PCSK9):c.914C>T (p.Ala305Val) rs1239236028 0.00001
NM_174936.4(PCSK9):c.955C>T (p.Arg319Trp) rs746442570 0.00001
NM_174936.4(PCSK9):c.961G>A (p.Asp321Asn) rs780509319 0.00001
NM_174936.4(PCSK9):c.97G>A (p.Asp33Asn) rs917219621 0.00001
NC_000019.10:g.11089329A>T
NC_000019.10:g.11089333G>T
NC_000019.10:g.11089334A>C
NC_000019.10:g.11089334A>T
NC_000019.10:g.11089335T>C
NC_000019.10:g.11089346C>T
NC_000019.10:g.11089351del
NC_000019.10:g.11089356C>G
NC_000019.10:g.11089364C>T
NC_000019.10:g.11089372G>T
NC_000019.10:g.11089393C>T rs879254364
NC_000019.10:g.11089401T>C
NC_000019.10:g.11089407C>T rs879254370
NC_000019.10:g.11089420T>G
NC_000019.10:g.11089421A>G
NC_000019.10:g.11089426C>T
NC_000019.10:g.11089430A>C
NC_000019.10:g.11089432A>G
NC_000019.10:g.11089446A>T
NC_000019.10:g.11089448T>C rs747068848
NC_000019.10:g.11089455G>A
NC_000019.10:g.11089455G>T rs1212116636
NC_000019.10:g.11089461G>A
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000384.3(APOB):c.10582T>C (p.Ser3528Pro)
NM_000527.5(LDLR):c.-13dup
NM_000527.5(LDLR):c.-16G>C
NM_000527.5(LDLR):c.-17T>C
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-18C>T
NM_000527.5(LDLR):c.-23A>G rs763282380
NM_000527.5(LDLR):c.-25A>T
NM_000527.5(LDLR):c.-36T>A
NM_000527.5(LDLR):c.-46C>A
NM_000527.5(LDLR):c.-47G>T
NM_000527.5(LDLR):c.-4G>A
NM_000527.5(LDLR):c.-55_-52del rs2077055920
NM_000527.5(LDLR):c.-63T>C
NM_000527.5(LDLR):c.-75G>A
NM_000527.5(LDLR):c.-75G>C
NM_000527.5(LDLR):c.-80T>C
NM_000527.5(LDLR):c.-84G>A
NM_000527.5(LDLR):c.1011G>T (p.Glu337Asp)
NM_000527.5(LDLR):c.1024G>C (p.Asp342His)
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.1093A>G (p.Ser365Gly)
NM_000527.5(LDLR):c.109G>A (p.Gly37Arg) rs2077193497
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) rs879254793
NM_000527.5(LDLR):c.1114G>C (p.Glu372Gln)
NM_000527.5(LDLR):c.1134G>A (p.Gln378=)
NM_000527.5(LDLR):c.1134G>C (p.Gln378His)
NM_000527.5(LDLR):c.1144G>C (p.Gly382Arg)
NM_000527.5(LDLR):c.1160C>A (p.Pro387His)
NM_000527.5(LDLR):c.1166C>G (p.Thr389Arg)
NM_000527.5(LDLR):c.1176C>T (p.Cys392=)
NM_000527.5(LDLR):c.1181C>T (p.Ala394Val)
NM_000527.5(LDLR):c.1196C>T (p.Ala399Val)
NM_000527.5(LDLR):c.1234A>G (p.Met412Val)
NM_000527.5(LDLR):c.125A>G (p.Tyr42Cys) rs2077193966
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1270C>A (p.Pro424Thr)
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1283A>C (p.Asn428Thr)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1303G>A (p.Glu435Lys)
NM_000527.5(LDLR):c.1315A>G (p.Asn439Asp)
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.5(LDLR):c.1358+5G>A
NM_000527.5(LDLR):c.1359-10_1359-8del
NM_000527.5(LDLR):c.1359-26_1359-23del
NM_000527.5(LDLR):c.1359-27_1359-3dup
NM_000527.5(LDLR):c.1359-30C>G
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile) rs754411636
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly) rs879254909
NM_000527.5(LDLR):c.1469G>C (p.Trp490Ser)
NM_000527.5(LDLR):c.1478C>G (p.Ser493Cys)
NM_000527.5(LDLR):c.1483C>G (p.Leu495Val)
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp) rs879254926
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1564A>G (p.Ile522Val) rs774337050
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1579G>A (p.Val527Ile) rs758890891
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1590C>A (p.Phe530Leu)
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
NM_000527.5(LDLR):c.161A>T (p.Asp54Val)
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr) rs879254993
NM_000527.5(LDLR):c.1716T>G (p.Ser572Arg)
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1768G>A (p.Val590Ile)
NM_000527.5(LDLR):c.176C>T (p.Ser59Phe)
NM_000527.5(LDLR):c.1778G>A (p.Gly593Asp)
NM_000527.5(LDLR):c.1800G>T (p.Glu600Asp)
NM_000527.5(LDLR):c.1801G>A (p.Asp601Asn)
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1819C>G (p.His607Asp)
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.5(LDLR):c.1849A>G (p.Lys617Glu)
NM_000527.5(LDLR):c.1874A>G (p.Asn625Ser) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1895A>G (p.Asn632Ser)
NM_000527.5(LDLR):c.191-15C>G rs749245318
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile) rs779940524
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.5(LDLR):c.1966C>T (p.His656Tyr)
NM_000527.5(LDLR):c.1970A>G (p.Asn657Ser)
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1984A>G (p.Arg662Gly)
NM_000527.5(LDLR):c.1990G>A (p.Val664Met) rs879255103
NM_000527.5(LDLR):c.2007G>T (p.Arg669Ser)
NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile)
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2034G>T (p.Gln678His)
NM_000527.5(LDLR):c.2051C>T (p.Ala684Val)
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) rs1060499932
NM_000527.5(LDLR):c.2063A>G (p.Asn688Ser)
NM_000527.5(LDLR):c.2078A>G (p.Lys693Arg)
NM_000527.5(LDLR):c.2089G>A (p.Ala697Thr) rs776217028
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2123T>C (p.Met708Thr) rs373839317
NM_000527.5(LDLR):c.2129G>A (p.Ser710Asn)
NM_000527.5(LDLR):c.2140+3G>A
NM_000527.5(LDLR):c.2140+85C>A
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2158G>A (p.Ala720Thr)
NM_000527.5(LDLR):c.2165A>G (p.Gln722Arg) rs1301407364
NM_000527.5(LDLR):c.2176A>G (p.Thr726Ala)
NM_000527.5(LDLR):c.2180T>A (p.Val727Asp) rs1568614490
NM_000527.5(LDLR):c.2190G>T (p.Lys730Asn)
NM_000527.5(LDLR):c.2191G>A (p.Val731Ile)
NM_000527.5(LDLR):c.2200A>G (p.Thr734Ala)
NM_000527.5(LDLR):c.2205C>G (p.Ala735=)
NM_000527.5(LDLR):c.2213C>T (p.Thr738Ile)
NM_000527.5(LDLR):c.2215C>G (p.Gln739Glu)
NM_000527.5(LDLR):c.2228C>T (p.Thr743Ile)
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2230_2232delinsTGG (p.Arg744Trp)
NM_000527.5(LDLR):c.2233C>T (p.Pro745Ser)
NM_000527.5(LDLR):c.2242G>C (p.Asp748His)
NM_000527.5(LDLR):c.2259_2264del (p.Gly754_Ala755del)
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.2294T>C (p.Val765Ala)
NM_000527.5(LDLR):c.2299A>G (p.Met767Val)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2329G>A (p.Gly777Ser)
NM_000527.5(LDLR):c.2330G>A (p.Gly777Asp)
NM_000527.5(LDLR):c.2341G>A (p.Glu781Lys)
NM_000527.5(LDLR):c.2363G>A (p.Arg788Lys)
NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)
NM_000527.5(LDLR):c.2389+6C>T
NM_000527.5(LDLR):c.2392C>T (p.Leu798Phe)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.5(LDLR):c.2410C>A (p.Leu804Met)
NM_000527.5(LDLR):c.2416G>C (p.Val806Leu)
NM_000527.5(LDLR):c.2433G>C (p.Lys811Asn)
NM_000527.5(LDLR):c.2446A>G (p.Lys816Glu)
NM_000527.5(LDLR):c.2456A>G (p.Asn819Ser)
NM_000527.5(LDLR):c.2465A>G (p.Asn822Ser)
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) rs879255215
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.2494A>G (p.Thr832Ala)
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.2523C>G (p.Asn841Lys)
NM_000527.5(LDLR):c.2525A>G (p.Gln842Arg)
NM_000527.5(LDLR):c.2537G>A (p.Ser846Asn)
NM_000527.5(LDLR):c.2542C>T (p.Pro848Ser)
NM_000527.5(LDLR):c.254A>G (p.Gln85Arg)
NM_000527.5(LDLR):c.2557G>C (p.Val853Leu)
NM_000527.5(LDLR):c.255G>T (p.Gln85His) rs879254450
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
NM_000527.5(LDLR):c.2561G>C (p.Ser854Thr) rs2077714879
NM_000527.5(LDLR):c.2563C>A (p.Leu855Met) rs775803775
NM_000527.5(LDLR):c.271G>A (p.Gly91Ser)
NM_000527.5(LDLR):c.303G>T (p.Glu101Asp)
NM_000527.5(LDLR):c.308G>T (p.Gly103Val)
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.314-9T>A
NM_000527.5(LDLR):c.323C>T (p.Thr108Met) rs750126678
NM_000527.5(LDLR):c.336C>A (p.Asp112Glu)
NM_000527.5(LDLR):c.371G>C (p.Arg124Pro) rs929536329
NM_000527.5(LDLR):c.375G>C (p.Gln125His)
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys) rs730882082
NM_000527.5(LDLR):c.421G>A (p.Ala141Thr)
NM_000527.5(LDLR):c.431C>G (p.Pro144Arg)
NM_000527.5(LDLR):c.46C>G (p.Leu16Val) rs2077058105
NM_000527.5(LDLR):c.497C>T (p.Ala166Val)
NM_000527.5(LDLR):c.49G>A (p.Ala17Thr)
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.512C>T (p.Pro171Leu)
NM_000527.5(LDLR):c.53C>A (p.Ala18Glu)
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) rs757292254
NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp)
NM_000527.5(LDLR):c.565G>A (p.Val189Met) rs370820135
NM_000527.5(LDLR):c.56C>G (p.Ala19Gly) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.574G>C (p.Gly192Arg) rs2077276377
NM_000527.5(LDLR):c.577G>T (p.Asp193Tyr)
NM_000527.5(LDLR):c.580A>G (p.Ser194Gly) rs373488885
NM_000527.5(LDLR):c.580A>T (p.Ser194Cys)
NM_000527.5(LDLR):c.585C>G (p.Ser195Arg)
NM_000527.5(LDLR):c.593C>G (p.Ser198Trp)
NM_000527.5(LDLR):c.635C>G (p.Ser212Cys)
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.64_65insTCG (p.Thr21_Ala22insVal)
NM_000527.5(LDLR):c.653G>C (p.Gly218Ala)
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.679G>C (p.Asp227His) rs2077282480
NM_000527.5(LDLR):c.682_683insGTATGGACTGCA (p.Glu228delinsGlyMetAspCysLys) rs2147225826
NM_000527.5(LDLR):c.685G>A (p.Glu229Lys)
NM_000527.5(LDLR):c.689A>T (p.Asn230Ile) rs2077283326
NM_000527.5(LDLR):c.695-5del
NM_000527.5(LDLR):c.69G>A (p.Val23=)
NM_000527.5(LDLR):c.712C>T (p.Pro238Ser)
NM_000527.5(LDLR):c.722T>G (p.Phe241Cys) rs748131256
NM_000527.5(LDLR):c.741C>G (p.Asn247Lys)
NM_000527.5(LDLR):c.750T>A (p.His250Gln) rs141929940
NM_000527.5(LDLR):c.752G>A (p.Gly251Asp)
NM_000527.5(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.5(LDLR):c.763T>G (p.Cys255Gly) rs879254668
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.77G>A (p.Arg26Lys)
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr) rs121908040
NM_000527.5(LDLR):c.787G>A (p.Asp263Asn)
NM_000527.5(LDLR):c.78A>T (p.Arg26Ser)
NM_000527.5(LDLR):c.7C>A (p.Pro3Thr)
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.818T>G (p.Val273Gly)
NM_000527.5(LDLR):c.831G>C (p.Glu277Asp)
NM_000527.5(LDLR):c.833G>A (p.Gly278Glu)
NM_000527.5(LDLR):c.835C>T (p.Pro279Ser) rs1555803827
NM_000527.5(LDLR):c.836C>G (p.Pro279Arg)
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala)
NM_000527.5(LDLR):c.928A>T (p.Ile310Phe)
NM_000527.5(LDLR):c.940+2dup
NM_000527.5(LDLR):c.940G>T (p.Gly314Trp)
NM_000527.5(LDLR):c.941-8C>G rs2077359932
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.5(LDLR):c.956T>C (p.Leu319Ser)
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser) rs879254403
NM_000527.5(LDLR):c.970G>T (p.Gly324Cys) rs72658860
NM_174936.4(PCSK9):c.-10C>T
NM_174936.4(PCSK9):c.-4C>A
NM_174936.4(PCSK9):c.-7G>A
NM_174936.4(PCSK9):c.-8del
NM_174936.4(PCSK9):c.1009G>A (p.Gly337Arg)
NM_174936.4(PCSK9):c.1019A>G (p.Asn340Ser)
NM_174936.4(PCSK9):c.1027G>A (p.Asp343Asn)
NM_174936.4(PCSK9):c.1030C>A (p.Gln344Lys)
NM_174936.4(PCSK9):c.1048A>T (p.Thr350Ser)
NM_174936.4(PCSK9):c.1054G>A (p.Gly352Arg)
NM_174936.4(PCSK9):c.1055G>A (p.Gly352Glu)
NM_174936.4(PCSK9):c.1060A>T (p.Asn354Tyr)
NM_174936.4(PCSK9):c.1070G>T (p.Arg357Leu)
NM_174936.4(PCSK9):c.1073G>A (p.Cys358Tyr)
NM_174936.4(PCSK9):c.1075G>A (p.Val359Met)
NM_174936.4(PCSK9):c.107G>A (p.Gly36Asp)
NM_174936.4(PCSK9):c.1081C>T (p.Leu361Phe)
NM_174936.4(PCSK9):c.108C>T (p.Gly36=)
NM_174936.4(PCSK9):c.1096G>A (p.Glu366Lys) rs1644723918
NM_174936.4(PCSK9):c.1109G>A (p.Gly370Asp)
NM_174936.4(PCSK9):c.1118G>T (p.Ser373Ile)
NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)
NM_174936.4(PCSK9):c.1127G>C (p.Ser376Thr)
NM_174936.4(PCSK9):c.1130C>A (p.Thr377Asn) rs760947578
NM_174936.4(PCSK9):c.1130C>G (p.Thr377Ser) rs760947578
NM_174936.4(PCSK9):c.1134C>G (p.Cys378Trp) rs776752113
NM_174936.4(PCSK9):c.1180+1G>T
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1181-3C>T
NM_174936.4(PCSK9):c.1201T>A (p.Ser401Thr)
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.1214A>G (p.Glu405Gly)
NM_174936.4(PCSK9):c.1216C>T (p.Leu406Phe)
NM_174936.4(PCSK9):c.1228G>C (p.Glu410Gln)
NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)
NM_174936.4(PCSK9):c.1264G>C (p.Asp422His)
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala) rs555751342
NM_174936.4(PCSK9):c.1304T>A (p.Val435Glu)
NM_174936.4(PCSK9):c.1310C>T (p.Thr437Ile)
NM_174936.4(PCSK9):c.1318C>A (p.Leu440Met)
NM_174936.4(PCSK9):c.1333C>T (p.Pro445Ser) rs761383351
NM_174936.4(PCSK9):c.1334C>A (p.Pro445His) rs769060209
NM_174936.4(PCSK9):c.1334C>G (p.Pro445Arg)
NM_174936.4(PCSK9):c.1337C>T (p.Pro446Leu)
NM_174936.4(PCSK9):c.1345_1346del (p.His449fs)
NM_174936.4(PCSK9):c.1354+1G>A
NM_174936.4(PCSK9):c.1354G>C (p.Gly452Arg) rs1173147037
NM_174936.4(PCSK9):c.1355G>A (p.Gly452Asp)
NM_174936.4(PCSK9):c.136C>A (p.Arg46Ser)
NM_174936.4(PCSK9):c.1372A>G (p.Arg458Gly)
NM_174936.4(PCSK9):c.1375A>G (p.Thr459Ala)
NM_174936.4(PCSK9):c.1390C>T (p.His464Tyr)
NM_174936.4(PCSK9):c.1392C>G (p.His464Gln)
NM_174936.4(PCSK9):c.1394C>A (p.Ser465Ter)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu)
NM_174936.4(PCSK9):c.140C>A (p.Ser47Tyr)
NM_174936.4(PCSK9):c.1418C>G (p.Ala473Gly)
NM_174936.4(PCSK9):c.1430G>A (p.Cys477Tyr)
NM_174936.4(PCSK9):c.1433C>T (p.Ala478Val)
NM_174936.4(PCSK9):c.1447C>G (p.Leu483Val) rs1570307690
NM_174936.4(PCSK9):c.1473G>T (p.Arg491Ser)
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1484G>T (p.Arg495Leu) rs370574590
NM_174936.4(PCSK9):c.148G>C (p.Asp50His)
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_174936.4(PCSK9):c.1496G>C (p.Arg499Pro) rs143394031
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu) rs143394031
NM_174936.4(PCSK9):c.1499T>C (p.Met500Thr)
NM_174936.4(PCSK9):c.1503+4A>T
NM_174936.4(PCSK9):c.1503+6_1503+15dup rs1449545218
NM_174936.4(PCSK9):c.1511G>A (p.Gly504Glu) rs1427178819
NM_174936.4(PCSK9):c.151G>T (p.Gly51Cys)
NM_174936.4(PCSK9):c.152G>A (p.Gly51Asp)
NM_174936.4(PCSK9):c.1531G>C (p.Ala511Pro)
NM_174936.4(PCSK9):c.1537A>G (p.Asn513Asp) rs1057516136
NM_174936.4(PCSK9):c.1549G>A (p.Gly517Ser)
NM_174936.4(PCSK9):c.1555G>A (p.Gly519Ser) rs2100330525
NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)
NM_174936.4(PCSK9):c.1567A>G (p.Ile523Val)
NM_174936.4(PCSK9):c.1570G>C (p.Ala524Pro) rs746457760
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.1601G>T (p.Cys534Phe) rs920130560
NM_174936.4(PCSK9):c.160G>A (p.Glu54Lys)
NM_174936.4(PCSK9):c.1646G>T (p.Arg549Leu)
NM_174936.4(PCSK9):c.164C>A (p.Ala55Glu)
NM_174936.4(PCSK9):c.1653C>G (p.His551Gln)
NM_174936.4(PCSK9):c.1657C>G (p.His553Asp)
NM_174936.4(PCSK9):c.1660C>A (p.Gln554Lys)
NM_174936.4(PCSK9):c.1679C>T (p.Thr560Ile)
NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)
NM_174936.4(PCSK9):c.1726C>T (p.Pro576Ser) rs1361987459
NM_174936.4(PCSK9):c.1735C>A (p.Leu579Met) rs751217094
NM_174936.4(PCSK9):c.1739G>A (p.Arg580Lys) rs776682841
NM_174936.4(PCSK9):c.174C>G (p.His58Gln)
NM_174936.4(PCSK9):c.1760A>G (p.Gln587Arg)
NM_174936.4(PCSK9):c.1778_1781del (p.Glu593fs)
NM_174936.4(PCSK9):c.1781C>A (p.Ala594Asp)
NM_174936.4(PCSK9):c.1793C>A (p.Ala598Asp)
NM_174936.4(PCSK9):c.1810C>T (p.Pro604Ser)
NM_174936.4(PCSK9):c.1825A>C (p.Lys609Gln)
NM_174936.4(PCSK9):c.1835A>G (p.Glu612Gly)
NM_174936.4(PCSK9):c.1838A>G (p.His613Arg)
NM_174936.4(PCSK9):c.1847C>A (p.Pro616Gln) rs755750316
NM_174936.4(PCSK9):c.1848G>T (p.Pro616=)
NM_174936.4(PCSK9):c.1849G>A (p.Ala617Thr)
NM_174936.4(PCSK9):c.1862A>C (p.Gln621Pro)
NM_174936.4(PCSK9):c.1863G>A (p.Gln621=)
NM_174936.4(PCSK9):c.1864-12G>A
NM_174936.4(PCSK9):c.1864-13del
NM_174936.4(PCSK9):c.1864G>A (p.Val622Met)
NM_174936.4(PCSK9):c.1868C>G (p.Thr623Ser)
NM_174936.4(PCSK9):c.1877G>A (p.Cys626Tyr)
NM_174936.4(PCSK9):c.1877G>C (p.Cys626Ser)
NM_174936.4(PCSK9):c.1879G>A (p.Glu627Lys)
NM_174936.4(PCSK9):c.188C>A (p.Thr63Asn)
NM_174936.4(PCSK9):c.1890G>C (p.Trp630Cys)
NM_174936.4(PCSK9):c.1897A>G (p.Thr633Ala) rs1002152564
NM_174936.4(PCSK9):c.1912C>T (p.Leu638Phe)
NM_174936.4(PCSK9):c.1916C>G (p.Pro639Arg)
NM_174936.4(PCSK9):c.1918G>C (p.Gly640Arg)
NM_174936.4(PCSK9):c.1925C>T (p.Ser642Phe)
NM_174936.4(PCSK9):c.1930G>T (p.Val644Phe)
NM_174936.4(PCSK9):c.1937G>A (p.Gly646Glu)
NM_174936.4(PCSK9):c.1948G>T (p.Val650Leu)
NM_174936.4(PCSK9):c.1952A>G (p.Asp651Gly) rs1644777850
NM_174936.4(PCSK9):c.1958C>A (p.Thr653Lys)
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1964T>G (p.Val655Gly)
NM_174936.4(PCSK9):c.196C>T (p.Arg66Cys) rs1437993187
NM_174936.4(PCSK9):c.1975C>G (p.Arg659Gly)
NM_174936.4(PCSK9):c.1976G>A (p.Arg659Gln)
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.1989_2000del (p.Thr664_Thr667del)
NM_174936.4(PCSK9):c.199T>C (p.Cys67Arg) rs376619733
NM_174936.4(PCSK9):c.2005G>A (p.Glu669Lys) rs886046435
NM_174936.4(PCSK9):c.2015T>A (p.Val672Glu)
NM_174936.4(PCSK9):c.2017A>G (p.Thr673Ala)
NM_174936.4(PCSK9):c.2027C>G (p.Ala676Gly)
NM_174936.4(PCSK9):c.202del (p.Ala68fs)
NM_174936.4(PCSK9):c.2039G>A (p.Arg680Gln)
NM_174936.4(PCSK9):c.2048dup (p.His683fs)
NM_174936.4(PCSK9):c.208-10A>T
NM_174936.4(PCSK9):c.208-14T>G rs750836360
NM_174936.4(PCSK9):c.208-1G>A
NM_174936.4(PCSK9):c.208-8G>A
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.229A>G (p.Thr77Ala)
NM_174936.4(PCSK9):c.235G>A (p.Val79Met)
NM_174936.4(PCSK9):c.23G>A (p.Arg8Gln)
NM_174936.4(PCSK9):c.249G>T (p.Lys83Asn)
NM_174936.4(PCSK9):c.271T>G (p.Ser91Ala)
NM_174936.4(PCSK9):c.274G>C (p.Glu92Gln)
NM_174936.4(PCSK9):c.286C>A (p.Arg96Ser)
NM_174936.4(PCSK9):c.287G>A (p.Arg96His) rs766999045
NM_174936.4(PCSK9):c.295C>T (p.Gln99Ter)
NM_174936.4(PCSK9):c.29G>C (p.Trp10Ser)
NM_174936.4(PCSK9):c.311G>A (p.Arg104His) rs72658890
NM_174936.4(PCSK9):c.335T>C (p.Leu112Pro)
NM_174936.4(PCSK9):c.335T>G (p.Leu112Arg) rs1021372164
NM_174936.4(PCSK9):c.338A>G (p.His113Arg)
NM_174936.4(PCSK9):c.356T>C (p.Leu119Pro)
NM_174936.4(PCSK9):c.370G>A (p.Val124Met)
NM_174936.4(PCSK9):c.375G>C (p.Lys125Asn) rs767164134
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.396G>A (p.Glu132=)
NM_174936.4(PCSK9):c.399+1G>C rs1461760908
NM_174936.4(PCSK9):c.400-2A>C
NM_174936.4(PCSK9):c.40C>T (p.Pro14Ser) rs1644584325
NM_174936.4(PCSK9):c.412C>T (p.Pro138Ser) rs780564433
NM_174936.4(PCSK9):c.415C>T (p.His139Tyr)
NM_174936.4(PCSK9):c.427A>G (p.Ile143Val)
NM_174936.4(PCSK9):c.428T>C (p.Ile143Thr)
NM_174936.4(PCSK9):c.429C>G (p.Ile143Met)
NM_174936.4(PCSK9):c.42_43insATGCTG (p.Pro14_Leu15insMetLeu)
NM_174936.4(PCSK9):c.430G>A (p.Glu144Lys) rs776150122
NM_174936.4(PCSK9):c.437A>G (p.Asp146Gly)
NM_174936.4(PCSK9):c.452C>T (p.Ala151Val)
NM_174936.4(PCSK9):c.454C>G (p.Gln152Glu)
NM_174936.4(PCSK9):c.45GCT[4] (p.Leu21_Leu23del) rs35574083
NM_174936.4(PCSK9):c.470A>G (p.Asn157Ser)
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.4G>A (p.Gly2Ser)
NM_174936.4(PCSK9):c.502G>T (p.Ala168Ser)
NM_174936.4(PCSK9):c.503C>G (p.Ala168Gly) rs770592607
NM_174936.4(PCSK9):c.522C>A (p.Pro174=)
NM_174936.4(PCSK9):c.523+6A>T
NM_174936.4(PCSK9):c.523G>T (p.Asp175Tyr)
NM_174936.4(PCSK9):c.524A>T (p.Asp175Val)
NM_174936.4(PCSK9):c.53T>G (p.Leu18Arg)
NM_174936.4(PCSK9):c.546G>T (p.Val182=)
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
NM_174936.4(PCSK9):c.554T>C (p.Leu185Pro)
NM_174936.4(PCSK9):c.556G>C (p.Asp186His)
NM_174936.4(PCSK9):c.557A>G (p.Asp186Gly)
NM_174936.4(PCSK9):c.572G>A (p.Ser191Asn)
NM_174936.4(PCSK9):c.579C>A (p.His193Gln)
NM_174936.4(PCSK9):c.580C>G (p.Arg194Gly)
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp) rs200027662
NM_174936.4(PCSK9):c.581G>C (p.Arg194Pro)
NM_174936.4(PCSK9):c.588C>G (p.Ile196Met)
NM_174936.4(PCSK9):c.599T>C (p.Val200Ala)
NM_174936.4(PCSK9):c.5G>A (p.Gly2Asp)
NM_174936.4(PCSK9):c.625C>T (p.Pro209Ser) rs1373540306
NM_174936.4(PCSK9):c.641C>A (p.Thr214Asn)
NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly) rs1278078294
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_174936.4(PCSK9):c.656A>G (p.Gln219Arg)
NM_174936.4(PCSK9):c.658-2A>C rs371336612
NM_174936.4(PCSK9):c.658-2A>G
NM_174936.4(PCSK9):c.658-8T>C rs1570301527
NM_174936.4(PCSK9):c.65T>C (p.Leu22Pro) rs1644584917
NM_174936.4(PCSK9):c.670G>A (p.Asp224Asn)
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
NM_174936.4(PCSK9):c.674G>C (p.Ser225Thr)
NM_174936.4(PCSK9):c.683C>G (p.Thr228Ser)
NM_174936.4(PCSK9):c.68T>A (p.Leu23Gln)
NM_174936.4(PCSK9):c.697G>A (p.Val233Met) rs150169598
NM_174936.4(PCSK9):c.70G>T (p.Gly24Cys)
NM_174936.4(PCSK9):c.713A>T (p.Asp238Val) rs1557503867
NM_174936.4(PCSK9):c.731G>A (p.Gly244Asp)
NM_174936.4(PCSK9):c.740_741insTGCGCAGCC (p.Met247delinsIleAlaGlnPro)
NM_174936.4(PCSK9):c.747C>G (p.Ser249Arg)
NM_174936.4(PCSK9):c.754G>T (p.Val252Leu)
NM_174936.4(PCSK9):c.758T>A (p.Leu253His)
NM_174936.4(PCSK9):c.760A>T (p.Asn254Tyr) rs1644685146
NM_174936.4(PCSK9):c.776G>A (p.Gly259Asp)
NM_174936.4(PCSK9):c.778_799+12del
NM_174936.4(PCSK9):c.782T>C (p.Val261Ala)
NM_174936.4(PCSK9):c.789C>T (p.Gly263=)
NM_174936.4(PCSK9):c.791C>A (p.Thr264Asn) rs201789841
NM_174936.4(PCSK9):c.793C>T (p.Leu265Phe)
NM_174936.4(PCSK9):c.799+5G>A
NM_174936.4(PCSK9):c.799+5G>C
NM_174936.4(PCSK9):c.79G>A (p.Gly27Ser)
NM_174936.4(PCSK9):c.803T>G (p.Leu268Arg)
NM_174936.4(PCSK9):c.815G>A (p.Arg272Gln) rs1486032110
NM_174936.4(PCSK9):c.821G>A (p.Ser274Asn)
NM_174936.4(PCSK9):c.82G>A (p.Ala28Thr)
NM_174936.4(PCSK9):c.833A>T (p.Gln278Leu)
NM_174936.4(PCSK9):c.836C>T (p.Pro279Leu) rs1049662014
NM_174936.4(PCSK9):c.844C>T (p.Pro282Ser)
NM_174936.4(PCSK9):c.848T>C (p.Leu283Pro) rs1644711279
NM_174936.4(PCSK9):c.851_868dup (p.Leu289_Ala290insValValLeuLeuProLeu)
NM_174936.4(PCSK9):c.854T>C (p.Val285Ala)
NM_174936.4(PCSK9):c.862C>T (p.Pro288Ser)
NM_174936.4(PCSK9):c.863C>T (p.Pro288Leu)
NM_174936.4(PCSK9):c.86G>A (p.Arg29His)
NM_174936.4(PCSK9):c.871G>A (p.Gly291Ser)
NM_174936.4(PCSK9):c.872G>A (p.Gly291Asp)
NM_174936.4(PCSK9):c.880A>G (p.Ser294Gly)
NM_174936.4(PCSK9):c.889C>T (p.Leu297Phe)
NM_174936.4(PCSK9):c.895G>A (p.Ala299Thr) rs1359249683
NM_174936.4(PCSK9):c.898G>A (p.Ala300Thr)
NM_174936.4(PCSK9):c.8C>T (p.Thr3Ile)
NM_174936.4(PCSK9):c.901T>C (p.Cys301Arg)
NM_174936.4(PCSK9):c.907C>T (p.Arg303Cys)
NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu)
NM_174936.4(PCSK9):c.928G>A (p.Val310Met) rs1200999906
NM_174936.4(PCSK9):c.928G>T (p.Val310Leu)
NM_174936.4(PCSK9):c.937A>G (p.Thr313Ala)
NM_174936.4(PCSK9):c.940G>C (p.Ala314Pro)
NM_174936.4(PCSK9):c.946G>A (p.Gly316Ser) rs554488891
NM_174936.4(PCSK9):c.946G>T (p.Gly316Cys)
NM_174936.4(PCSK9):c.953T>A (p.Phe318Tyr)
NM_174936.4(PCSK9):c.956G>A (p.Arg319Gln) rs1644712458
NM_174936.4(PCSK9):c.960C>A (p.Asp320Glu)
NM_174936.4(PCSK9):c.96G>C (p.Glu32Asp)
NM_174936.4(PCSK9):c.986C>T (p.Ser329Leu)
NM_174936.4(PCSK9):c.991C>T (p.Pro331Ser)
NM_174936.4(PCSK9):c.995A>G (p.Glu332Gly)
NM_174936.4(PCSK9):c.996+1G>A
NM_174936.4(PCSK9):c.996+5G>A
NM_174936.4(PCSK9):c.996+7dup
NM_174936.4(PCSK9):c.997-2A>T rs1401563215

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.