ClinVar Miner

List of variants in gene PCSK9 reported as likely benign for Familial hypercholesterolemia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 261
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) rs72646508 0.00098
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.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.1504-7C>T rs72646520 0.00046
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 0.00033
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
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.1855C>T (p.Gln619Ter) rs142118418 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.1011G>A (p.Gly337=) rs746723269 0.00009
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.1116C>T (p.Ser372=) rs1379493748 0.00007
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 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.1464T>C (p.Ser488=) rs142229832 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.310C>T (p.Arg104Cys) rs369067856 0.00006
NM_174936.4(PCSK9):c.429C>T (p.Ile143=) rs368511429 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.942T>C (p.Ala314=) rs1026609359 0.00006
NM_174936.4(PCSK9):c.945C>T (p.Ala315=) rs1378856006 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=) rs199815786 0.00005
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.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.2013C>T (p.Ala671=) rs761714505 0.00004
NM_174936.4(PCSK9):c.2028C>T (p.Ala676=) rs142524469 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.500G>A (p.Arg167Gln) rs779384470 0.00004
NM_174936.4(PCSK9):c.504G>A (p.Ala168=) rs776208295 0.00004
NM_174936.4(PCSK9):c.627C>T (p.Pro209=) rs375892354 0.00004
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+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.234C>T (p.Tyr78=) rs779758641 0.00003
NM_174936.4(PCSK9):c.278G>A (p.Arg93His) rs763855534 0.00003
NM_174936.4(PCSK9):c.350G>A (p.Gly117Asp) rs761417131 0.00003
NM_174936.4(PCSK9):c.658-10C>T rs375695759 0.00003
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
NM_174936.4(PCSK9):c.1035G>A (p.Pro345=) rs767809932 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.1518G>A (p.Lys506=) rs903946804 0.00002
NM_174936.4(PCSK9):c.1533C>T (p.Ala511=) rs1033662150 0.00002
NM_174936.4(PCSK9):c.159C>T (p.Ala53=) rs759214329 0.00002
NM_174936.4(PCSK9):c.1671C>T (p.His557=) rs72646521 0.00002
NM_174936.4(PCSK9):c.1735C>T (p.Leu579=) rs751217094 0.00002
NM_174936.4(PCSK9):c.2022C>T (p.Ala674=) rs886046436 0.00002
NM_174936.4(PCSK9):c.420C>T (p.Val140=) rs749630126 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.-8T>C rs886039837 0.00001
NM_174936.4(PCSK9):c.1029C>T (p.Asp343=) rs1159305130 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.1144C>T (p.Gln382Ter) rs773363923 0.00001
NM_174936.4(PCSK9):c.1181-6C>T rs1301884424 0.00001
NM_174936.4(PCSK9):c.1293G>A (p.Glu431=) rs777706463 0.00001
NM_174936.4(PCSK9):c.1323G>A (p.Val441=) rs1365723695 0.00001
NM_174936.4(PCSK9):c.1355-9T>A rs1266793671 0.00001
NM_174936.4(PCSK9):c.1413C>T (p.Ala471=) rs1357691724 0.00001
NM_174936.4(PCSK9):c.1423G>A (p.Ala475Thr) rs773699134 0.00001
NM_174936.4(PCSK9):c.1427G>A (p.Arg476His) rs376388695 0.00001
NM_174936.4(PCSK9):c.1504-15G>A rs765073505 0.00001
NM_174936.4(PCSK9):c.1560C>T (p.Val520=) rs542863545 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.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.1744C>T (p.Arg582Ter) rs373323910 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.1899T>A (p.Thr633=) rs1202472675 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.2023G>A (p.Val675Ile) rs760981278 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 0.00001
NM_174936.4(PCSK9):c.2045G>A (p.Arg682Gln) rs758946245 0.00001
NM_174936.4(PCSK9):c.213G>A (p.Pro71=) rs1243883156 0.00001
NM_174936.4(PCSK9):c.400-7T>C rs866539996 0.00001
NM_174936.4(PCSK9):c.42_44del (p.Leu23del) rs1453893690 0.00001
NM_174936.4(PCSK9):c.447C>T (p.Val149=) rs758997842 0.00001
NM_174936.4(PCSK9):c.523G>A (p.Asp175Asn) rs150898485 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.615C>T (p.Phe205=) rs759797943 0.00001
NM_174936.4(PCSK9):c.636C>T (p.Asp212=) rs757510932 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.660_667del (p.Ala220_Ser221insTer) rs749813311 0.00001
NM_174936.4(PCSK9):c.66C>T (p.Leu22=) rs926463199 0.00001
NM_174936.4(PCSK9):c.755del (p.Val252fs) rs779469742 0.00001
NM_174936.4(PCSK9):c.800-3C>T rs749915837 0.00001
NM_174936.4(PCSK9):c.831C>G (p.Val277=) rs138038246 0.00001
NM_174936.4(PCSK9):c.894C>T (p.Asn298=) rs1157271008 0.00001
NM_174936.4(PCSK9):c.936C>T (p.Val312=) rs752401519 0.00001
NM_174936.4(PCSK9):c.-9C>T rs1225046798
NM_174936.4(PCSK9):c.1007_1032del (p.Val336fs) rs1644722756
NM_174936.4(PCSK9):c.1017C>T (p.Thr339=) rs1557506219
NM_174936.4(PCSK9):c.1030C>T (p.Gln344Ter) rs72646513
NM_174936.4(PCSK9):c.1041C>A (p.Thr347=) rs2100320214
NM_174936.4(PCSK9):c.1042C>T (p.Leu348=) rs750542221
NM_174936.4(PCSK9):c.1044G>A (p.Leu348=) rs1423534032
NM_174936.4(PCSK9):c.1047del (p.Thr350fs)
NM_174936.4(PCSK9):c.1056G>A (p.Gly352=) rs1304477848
NM_174936.4(PCSK9):c.1095G>A (p.Gly365=) rs780649814
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1133_1134delinsAA (p.Cys378Ter) rs1553137557
NM_174936.4(PCSK9):c.1144_1145del (p.Gln382fs) rs751063800
NM_174936.4(PCSK9):c.1149del (p.Ser383fs) rs1557506363
NM_174936.4(PCSK9):c.1181-12C>A rs1644728950
NM_174936.4(PCSK9):c.1181-9delinsTT rs1644728981
NM_174936.4(PCSK9):c.1182C>A (p.Gly394=) rs1644729067
NM_174936.4(PCSK9):c.1212G>C (p.Pro404=) rs777470856
NM_174936.4(PCSK9):c.1236G>A (p.Arg412=) rs1644729563
NM_174936.4(PCSK9):c.123G>C (p.Leu41=) rs1644585765
NM_174936.4(PCSK9):c.1254C>T (p.Phe418=) rs1378713223
NM_174936.4(PCSK9):c.1260del (p.Asp422fs) rs1311197628
NM_174936.4(PCSK9):c.1266T>C (p.Asp422=) rs1215843842
NM_174936.4(PCSK9):c.132C>T (p.Ala44=) rs1178309760
NM_174936.4(PCSK9):c.1332G>A (p.Leu444=) rs886046433
NM_174936.4(PCSK9):c.1335C>T (p.Pro445=) rs1200168752
NM_174936.4(PCSK9):c.1355-4G>T rs1644733187
NM_174936.4(PCSK9):c.1356T>G (p.Gly452=) rs886038746
NM_174936.4(PCSK9):c.1378_1380delinsTG (p.Val460fs) rs1644733412
NM_174936.4(PCSK9):c.1380_1382delinsGTA (p.Trp461Ter) rs1644733538
NM_174936.4(PCSK9):c.1395G>C (p.Ser465=)
NM_174936.4(PCSK9):c.1401T>A (p.Pro467=) rs1380003284
NM_174936.4(PCSK9):c.1404A>G (p.Thr468=) rs1378159870
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1407G>T (p.Arg469=) rs747317254
NM_174936.4(PCSK9):c.1413C>A (p.Ala471=) rs1357691724
NM_174936.4(PCSK9):c.142G>T (p.Glu48Ter) rs1278890129
NM_174936.4(PCSK9):c.1449G>T (p.Leu483=)
NM_174936.4(PCSK9):c.1479G>C (p.Gly493=) rs1557507221
NM_174936.4(PCSK9):c.1482G>A (p.Lys494=) rs1644734716
NM_174936.4(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.4(PCSK9):c.1504-5C>G rs763241481
NM_174936.4(PCSK9):c.1504-5C>T rs763241481
NM_174936.4(PCSK9):c.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.1514dup (p.Lys506fs) rs1644742420
NM_174936.4(PCSK9):c.1515C>A (p.Gly505=) rs1042826452
NM_174936.4(PCSK9):c.1538del (p.Asn513fs) rs2100330364
NM_174936.4(PCSK9):c.156G>A (p.Leu52=) rs1231649101
NM_174936.4(PCSK9):c.156_158delinsAGT (p.Ala53Val) rs1644586405
NM_174936.4(PCSK9):c.1591C>T (p.Gln531Ter) rs1644743243
NM_174936.4(PCSK9):c.1623A>G (p.Pro541=) rs1644743439
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1668C>A (p.Gly556=) rs1570308726
NM_174936.4(PCSK9):c.1682-3dup rs749072203
NM_174936.4(PCSK9):c.1682-6C>T
NM_174936.4(PCSK9):c.1746A>G (p.Arg582=) rs1644757971
NM_174936.4(PCSK9):c.1779G>A (p.Glu593=) rs1453831826
NM_174936.4(PCSK9):c.178A>G (p.Thr60Ala)
NM_174936.4(PCSK9):c.1797C>T (p.Ser599=) rs1349990848
NM_174936.4(PCSK9):c.1864-5G>T rs1644776869
NM_174936.4(PCSK9):c.1887C>T (p.Gly629=)
NM_174936.4(PCSK9):c.1901_1904dup (p.Cys635fs) rs1644777247
NM_174936.4(PCSK9):c.1914C>T (p.Leu638=) rs948729146
NM_174936.4(PCSK9):c.192C>T (p.Phe64=)
NM_174936.4(PCSK9):c.1945_1954del (p.Ala649fs) rs1644777752
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.1959G>C (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.1987A>G (p.Thr663Ala) rs1325251210
NM_174936.4(PCSK9):c.2013C>G (p.Ala671=) rs761714505
NM_174936.4(PCSK9):c.201C>T (p.Cys67=) rs1644587227
NM_174936.4(PCSK9):c.2055G>A (p.Ala685=) rs1490853919
NM_174936.4(PCSK9):c.207+6G>A rs1306315743
NM_174936.4(PCSK9):c.208-10A>G rs761104090
NM_174936.4(PCSK9):c.252G>A (p.Glu84=) rs768895535
NM_174936.4(PCSK9):c.261C>T (p.His87=) rs1474074355
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp) rs771978846
NM_174936.4(PCSK9):c.268C>T (p.Gln90Ter) rs2100266778
NM_174936.4(PCSK9):c.27C>G (p.Ser9=) rs562480265
NM_174936.4(PCSK9):c.327C>G (p.Thr109=) rs759986372
NM_174936.4(PCSK9):c.36G>A (p.Pro12=) rs1202453511
NM_174936.4(PCSK9):c.393G>A (p.Leu131=)
NM_174936.4(PCSK9):c.400-15C>T rs1644635525
NM_174936.4(PCSK9):c.400-5T>C rs1284307557
NM_174936.4(PCSK9):c.405G>A (p.Leu135=) rs2100275802
NM_174936.4(PCSK9):c.411G>A (p.Leu137=)
NM_174936.4(PCSK9):c.42A>G (p.Pro14=)
NM_174936.4(PCSK9):c.42_50del (p.Leu21_Leu23del) rs1644584450
NM_174936.4(PCSK9):c.449_450del (p.Phe150fs) rs793888520
NM_174936.4(PCSK9):c.456G>A (p.Gln152=) rs1305635836
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[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.465G>A (p.Pro155=) rs762792417
NM_174936.4(PCSK9):c.467_468delinsAA (p.Trp156Ter) rs1644636495
NM_174936.4(PCSK9):c.501G>A (p.Arg167=) rs748481228
NM_174936.4(PCSK9):c.513C>A (p.Tyr171Ter) rs1644637183
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.552C>T (p.Leu184=) rs1644680335
NM_174936.4(PCSK9):c.554_558del (p.Leu185fs) rs1644680378
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs) rs755197912
NM_174936.4(PCSK9):c.568C>T (p.Gln190Ter) rs1557503455
NM_174936.4(PCSK9):c.580C>A (p.Arg194=) rs200027662
NM_174936.4(PCSK9):c.588C>T (p.Ile196=) rs762910129
NM_174936.4(PCSK9):c.602T>C (p.Met201Thr) rs1254535640
NM_174936.4(PCSK9):c.606C>T (p.Val202=) rs760346826
NM_174936.4(PCSK9):c.61_69dup (p.Leu23_Gly24insLeuLeuLeu)
NM_174936.4(PCSK9):c.634_644del (p.Asp212fs) rs1644681304
NM_174936.4(PCSK9):c.651_652del (p.His217fs) rs1644681507
NM_174936.4(PCSK9):c.658-10C>G rs375695759
NM_174936.4(PCSK9):c.67_92del (p.Leu23fs)
NM_174936.4(PCSK9):c.693A>G (p.Ala231=) rs1644684348
NM_174936.4(PCSK9):c.6C>T (p.Gly2=) rs1644584021
NM_174936.4(PCSK9):c.714T>C (p.Asp238=) rs1300943486
NM_174936.4(PCSK9):c.762C>T (p.Asn254=) rs915006256
NM_174936.4(PCSK9):c.772A>T (p.Lys258Ter) rs771479424
NM_174936.4(PCSK9):c.780G>A (p.Thr260=) rs1397743766
NM_174936.4(PCSK9):c.800-12T>C rs1644710625
NM_174936.4(PCSK9):c.800-5C>T rs1644710672
NM_174936.4(PCSK9):c.81C>T (p.Gly27=) rs1288602841
NM_174936.4(PCSK9):c.820del (p.Ser274fs)
NM_174936.4(PCSK9):c.84C>T (p.Ala28=) rs1570290647
NM_174936.4(PCSK9):c.855G>A (p.Val285=) rs2100311818
NM_174936.4(PCSK9):c.864C>T (p.Pro288=)
NM_174936.4(PCSK9):c.870G>A (p.Ala290=) rs868122267
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.90G>A (p.Ala30=) rs1644585418
NM_174936.4(PCSK9):c.939C>T (p.Thr313=) rs534113572
NM_174936.4(PCSK9):c.954C>T (p.Phe318=)
NM_174936.4(PCSK9):c.95AGGACG[3] (p.32ED[3]) rs746705490
NM_174936.4(PCSK9):c.993C>G (p.Pro331=) rs376753957
NM_174936.4(PCSK9):c.997-12T>C rs1644722615
NM_174936.4(PCSK9):c.997-13_997-11del rs1644722564
NM_174936.4(PCSK9):c.997-14C>T rs2100319765
NM_174936.4(PCSK9):c.999C>A (p.Val333=)

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