ClinVar Miner

List of variants in gene PCSK9 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 274
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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.1171C>A (p.His391Asn) rs146471967 0.00086
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.426C>G (p.Tyr142Ter) rs67608943 0.00048
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.1294G>A (p.Asp432Asn) rs72646515 0.00024
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.1980C>T (p.Asp660=) rs371914056 0.00018
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
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.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.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.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.1969A>G (p.Arg657Gly) rs767286042 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.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.1539C>T (p.Asn513=) rs781492750 0.00004
NM_174936.4(PCSK9):c.1605C>T (p.Ser535=) rs751405776 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.627C>T (p.Pro209=) rs375892354 0.00004
NM_174936.4(PCSK9):c.717C>T (p.Ala239=) rs370145766 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+12C>T rs776658758 0.00003
NM_174936.4(PCSK9):c.1947C>T (p.Ala649=) rs1316935112 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.228C>T (p.Gly76=) rs376554821 0.00003
NM_174936.4(PCSK9):c.234C>T (p.Tyr78=) rs779758641 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.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.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.2022C>T (p.Ala674=) rs886046436 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.885C>T (p.Arg295=) rs554884005 0.00002
NM_174936.4(PCSK9):c.9C>T (p.Thr3=) rs1465865735 0.00002
NM_174936.4(PCSK9):c.1023C>T (p.Ala341=) rs1401778614 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.1323G>A (p.Val441=) rs1365723695 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.1504-15G>A rs765073505 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.1764C>T (p.Cys588=) rs368516937 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.198C>T (p.Arg66=) rs760439904 0.00001
NM_174936.4(PCSK9):c.2038C>T (p.Arg680Trp) rs533555352 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.447C>T (p.Val149=) rs758997842 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.561C>A (p.Thr187=) rs955998985 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.658-6G>A rs745633457 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.799+10G>C rs1007493174 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.960C>T (p.Asp320=) rs910368517 0.00001
NM_174936.4(PCSK9):c.1011G>T (p.Gly337=) rs746723269
NM_174936.4(PCSK9):c.1042C>T (p.Leu348=) rs750542221
NM_174936.4(PCSK9):c.1089C>T (p.Ala363=)
NM_174936.4(PCSK9):c.1099G>C (p.Asp367His) rs141867978
NM_174936.4(PCSK9):c.1131C>T (p.Thr377=) rs2100320831
NM_174936.4(PCSK9):c.1134C>T (p.Cys378=)
NM_174936.4(PCSK9):c.114C>T (p.Tyr38=)
NM_174936.4(PCSK9):c.1158A>C (p.Ser386=) rs2100320993
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.120G>A (p.Glu40=)
NM_174936.4(PCSK9):c.1212G>T (p.Pro404=) rs777470856
NM_174936.4(PCSK9):c.1268T>C (p.Val423Ala) rs555751342
NM_174936.4(PCSK9):c.12C>T (p.Val4=)
NM_174936.4(PCSK9):c.1311C>A (p.Thr437=)
NM_174936.4(PCSK9):c.1335C>T (p.Pro445=) rs1200168752
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.1404A>G (p.Thr468=) rs1378159870
NM_174936.4(PCSK9):c.1416A>G (p.Thr472=)
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.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[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[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.150C>T (p.Asp50=)
NM_174936.4(PCSK9):c.1519C>T (p.Leu507=)
NM_174936.4(PCSK9):c.154C>T (p.Leu52=)
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.1593G>A (p.Gln531=)
NM_174936.4(PCSK9):c.1656C>T (p.Cys552=) rs1177467649
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.1682-5C>T
NM_174936.4(PCSK9):c.1683C>G (p.Gly561=) rs2100336885
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.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.1848G>C (p.Pro616=)
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.1893C>A (p.Thr631=)
NM_174936.4(PCSK9):c.1902C>G (p.Gly634=)
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.195C>T (p.His65=)
NM_174936.4(PCSK9):c.1992A>T (p.Thr664=) rs1570311492
NM_174936.4(PCSK9):c.2004C>T (p.Ser668=)
NM_174936.4(PCSK9):c.2016G>C (p.Val672=)
NM_174936.4(PCSK9):c.2037C>T (p.Cys679=)
NM_174936.4(PCSK9):c.2055G>A (p.Ala685=) rs1490853919
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.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.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.309C>T (p.Ala103=)
NM_174936.4(PCSK9):c.315G>A (p.Arg105=)
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.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.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.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.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.465G>A (p.Pro155=) rs762792417
NM_174936.4(PCSK9):c.501G>A (p.Arg167=) rs748481228
NM_174936.4(PCSK9):c.516G>A (p.Gln172=)
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.524-9del rs751658486
NM_174936.4(PCSK9):c.546G>A (p.Val182=)
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.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.618G>A (p.Glu206=)
NM_174936.4(PCSK9):c.654A>G (p.Arg218=) 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.658-8T>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.800-17G>A
NM_174936.4(PCSK9):c.810T>C (p.Phe270=)
NM_174936.4(PCSK9):c.864C>T (p.Pro288=)
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.915G>A (p.Ala305=)
NM_174936.4(PCSK9):c.939C>T (p.Thr313=) rs534113572
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.997-12T>A rs1644722615
NM_174936.4(PCSK9):c.997-16C>T

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