ClinVar Miner

List of variants reported as uncertain significance for Hypercholesterolemia, autosomal dominant, 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 496
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HGVS dbSNP gnomAD frequency
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.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
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.*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.*28G>A rs189293781 0.00048
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 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.499C>T (p.Arg167Trp) rs137878146 0.00020
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.*368G>A rs151125363 0.00011
NM_174936.4(PCSK9):c.1646G>A (p.Arg549His) rs111400659 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.493C>T (p.Arg165Trp) rs141593516 0.00008
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser) rs533273863 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.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.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.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.310C>T (p.Arg104Cys) rs369067856 0.00006
NM_174936.4(PCSK9):c.471C>A (p.Asn157Lys) rs143117125 0.00006
NM_174936.4(PCSK9):c.658-9G>A rs757194881 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.1930G>A (p.Val644Ile) rs143291739 0.00005
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) rs754143671 0.00005
NM_174936.4(PCSK9):c.*1085G>A rs886046450 0.00004
NM_174936.4(PCSK9):c.1120G>A (p.Asp374Asn) rs137852912 0.00004
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.1792G>A (p.Ala598Thr) rs367606156 0.00004
NM_174936.4(PCSK9):c.1863+1G>A rs765335983 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.657+1G>T rs142824171 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_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.208-7G>A rs754232605 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.523+2dup rs773067887 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
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.1250A>G (p.His417Arg) rs769163891 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.1733T>A (p.Val578Glu) rs765583923 0.00002
NM_174936.4(PCSK9):c.1745G>A (p.Arg582Gln) rs745333538 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.2022C>T (p.Ala674=) rs886046436 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
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser) rs200146448 0.00002
NM_000384.3(APOB):c.10314G>T (p.Met3438Ile) rs761164094 0.00001
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.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.118G>A (p.Glu40Lys) rs1416330878 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.1301G>A (p.Arg434Gln) rs1416309628 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.1371C>G (p.Cys457Trp) rs771108863 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.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.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.1998C>A (p.Ser666Arg) rs745578045 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.202G>A (p.Ala68Thr) rs778639605 0.00001
NM_174936.4(PCSK9):c.207+6G>C rs1306315743 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.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.378G>A (p.Met126Ile) rs749928920 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.589G>A (p.Glu197Lys) rs772114791 0.00001
NM_174936.4(PCSK9):c.592G>A (p.Gly198Ser) rs764087262 0.00001
NM_174936.4(PCSK9):c.612C>T (p.Asp204=) rs776649189 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.724G>A (p.Ala242Thr) rs1238510123 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.772A>G (p.Lys258Glu) rs771479424 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.869C>A (p.Ala290Glu) rs1354172136 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_000001.10:g.(?_55505511)_(55505737_?)dup
NC_000001.11:g.(?_55043823)_(55044054_?)del
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.-10C>T
NM_174936.4(PCSK9):c.-245G>C rs28362201
NM_174936.4(PCSK9):c.-4C>A
NM_174936.4(PCSK9):c.-68C>T rs1644583178
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>T (p.Gln344Ter) rs72646513
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.106_111dup (p.Asp37_Tyr38insGlyAsp)
NM_174936.4(PCSK9):c.1070G>T (p.Arg357Leu)
NM_174936.4(PCSK9):c.1073G>A (p.Cys358Tyr)
NM_174936.4(PCSK9):c.1081C>T (p.Leu361Phe)
NM_174936.4(PCSK9):c.108C>T (p.Gly36=)
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.1118G>T (p.Ser373Ile)
NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)
NM_174936.4(PCSK9):c.1123T>G (p.Cys375Gly) rs1644724189
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.113A>G (p.Tyr38Cys)
NM_174936.4(PCSK9):c.1147A>C (p.Ser383Arg) rs1644724470
NM_174936.4(PCSK9):c.115G>A (p.Glu39Lys) rs781590513
NM_174936.4(PCSK9):c.1180+1G>T
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1181-2A>G
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.1297C>T (p.Gln433Ter)
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.1332G>A (p.Leu444=) rs886046433
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.1338C>T (p.Pro446=) rs1644730812
NM_174936.4(PCSK9):c.1351G>T (p.Ala451Ser) rs983143621
NM_174936.4(PCSK9):c.1355G>A (p.Gly452Asp)
NM_174936.4(PCSK9):c.136C>A (p.Arg46Ser)
NM_174936.4(PCSK9):c.1375A>G (p.Thr459Ala)
NM_174936.4(PCSK9):c.1378_1380delinsATG (p.Val460Met) rs1644733403
NM_174936.4(PCSK9):c.1390C>T (p.His464Tyr)
NM_174936.4(PCSK9):c.1392C>G (p.His464Gln)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1415C>T (p.Thr472Ile) rs1644734019
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+6_1503+15dup rs1449545218
NM_174936.4(PCSK9):c.1511G>A (p.Gly504Glu) rs1427178819
NM_174936.4(PCSK9):c.1515C>A (p.Gly505=) rs1042826452
NM_174936.4(PCSK9):c.1518G>C (p.Lys506Asn) rs903946804
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.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.1549G>A (p.Gly517Ser)
NM_174936.4(PCSK9):c.1550G>T (p.Gly517Val) rs1182044412
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.1591C>T (p.Gln531Ter) rs1644743243
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.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1679C>T (p.Thr560Ile)
NM_174936.4(PCSK9):c.168C>T (p.Pro56=) rs763029049
NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)
NM_174936.4(PCSK9):c.1699G>A (p.Glu567Lys)
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.175G>A (p.Gly59Arg) rs1060500657
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.1792G>T (p.Ala598Ser) rs367606156
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.1837C>A (p.His613Asn) rs1644758908
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.1858G>A (p.Glu620Lys) rs1060500656
NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp) rs886039839
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.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.187A>G (p.Thr63Ala)
NM_174936.4(PCSK9):c.188C>A (p.Thr63Asn)
NM_174936.4(PCSK9):c.1897A>G (p.Thr633Ala) rs1002152564
NM_174936.4(PCSK9):c.189del (p.Phe64fs)
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.1920G>T (p.Gly640=) rs1060500658
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>A (p.Arg66Ser)
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.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.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.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.203C>T (p.Ala68Val) rs2100253083
NM_174936.4(PCSK9):c.2054C>T (p.Ala685Val)
NM_174936.4(PCSK9):c.2059G>C (p.Ala687Pro)
NM_174936.4(PCSK9):c.2066A>T (p.Gln689Leu) rs2100344811
NM_174936.4(PCSK9):c.2069A>T (p.Glu690Val)
NM_174936.4(PCSK9):c.207+14_207+15delinsAG
NM_174936.4(PCSK9):c.208-10A>T
NM_174936.4(PCSK9):c.208-14T>G rs750836360
NM_174936.4(PCSK9):c.208-6G>A rs2100266306
NM_174936.4(PCSK9):c.208-8G>A
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.235G>A (p.Val79Met)
NM_174936.4(PCSK9):c.238del (p.Val80fs) rs1644614862
NM_174936.4(PCSK9):c.23G>A (p.Arg8Gln)
NM_174936.4(PCSK9):c.247A>G (p.Lys83Glu) rs1557499351
NM_174936.4(PCSK9):c.274G>C (p.Glu92Gln)
NM_174936.4(PCSK9):c.287G>A (p.Arg96His) rs766999045
NM_174936.4(PCSK9):c.295C>T (p.Gln99Ter)
NM_174936.4(PCSK9):c.311G>A (p.Arg104His) rs72658890
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg) rs2100267180
NM_174936.4(PCSK9):c.322C>T (p.Leu108Phe) rs1057519692
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.399+6C>A
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.424T>C (p.Tyr142His)
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.42_50del (p.Leu21_Leu23del) rs1644584450
NM_174936.4(PCSK9):c.430G>A (p.Glu144Lys) rs776150122
NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)
NM_174936.4(PCSK9):c.443_444del (p.Ser148fs) rs978861923
NM_174936.4(PCSK9):c.454C>G (p.Gln152Glu)
NM_174936.4(PCSK9):c.456G>C (p.Gln152His)
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.467G>A (p.Trp156Ter) rs1557500768
NM_174936.4(PCSK9):c.468G>A (p.Trp156Ter) rs1557500771
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.522C>A (p.Pro174=)
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.523+6A>T
NM_174936.4(PCSK9):c.523G>T (p.Asp175Tyr)
NM_174936.4(PCSK9):c.524-2del rs1644679774
NM_174936.4(PCSK9):c.524-3A>C rs765777205
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.553C>G (p.Leu185Val)
NM_174936.4(PCSK9):c.554T>C (p.Leu185Pro)
NM_174936.4(PCSK9):c.554_558del (p.Leu185fs) rs1644680378
NM_174936.4(PCSK9):c.556G>C (p.Asp186His)
NM_174936.4(PCSK9):c.557A>G (p.Asp186Gly)
NM_174936.4(PCSK9):c.579C>A (p.His193Gln)
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.641C>A (p.Thr214Asn)
NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly) rs1278078294
NM_174936.4(PCSK9):c.653G>A (p.Arg218Lys)
NM_174936.4(PCSK9):c.655C>G (p.Gln219Glu) rs778617372
NM_174936.4(PCSK9):c.656A>G (p.Gln219Arg)
NM_174936.4(PCSK9):c.658-11T>A
NM_174936.4(PCSK9):c.658-2A>C rs371336612
NM_174936.4(PCSK9):c.658-2A>G
NM_174936.4(PCSK9):c.658-6G>T rs745633457
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.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.760A>T (p.Asn254Tyr) rs1644685146
NM_174936.4(PCSK9):c.776G>A (p.Gly259Asp)
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.799+5del rs2100299786
NM_174936.4(PCSK9):c.815G>A (p.Arg272Gln) rs1486032110
NM_174936.4(PCSK9):c.819A>C (p.Lys273Asn)
NM_174936.4(PCSK9):c.821G>A (p.Ser274Asn)
NM_174936.4(PCSK9):c.82G>A (p.Ala28Thr)
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.85C>G (p.Arg29Gly) rs866597555
NM_174936.4(PCSK9):c.862C>T (p.Pro288Ser)
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>A (p.Thr3Asn) rs966100677
NM_174936.4(PCSK9):c.8C>T (p.Thr3Ile)
NM_174936.4(PCSK9):c.907C>T (p.Arg303Cys)
NM_174936.4(PCSK9):c.914C>A (p.Ala305Glu)
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.969C>T (p.Cys323=)
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+4G>A
NM_174936.4(PCSK9):c.997-2A>T rs1401563215

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