ClinVar Miner

List of variants in gene PCSK9 reported as benign

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Gene type:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.1026A>G (p.Gln342=) rs509504 0.98223
NM_174936.4(PCSK9):c.207+15A>G rs2495482 0.91171
NM_174936.4(PCSK9):c.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.4(PCSK9):c.1355-56C>T rs585131 0.82748
NM_174936.4(PCSK9):c.1503+67T>C rs563641 0.82678
NM_174936.4(PCSK9):c.*571C>T rs662145 0.67233
NM_174936.3(PCSK9):c.-861G>A rs2479409 0.65880
NM_174936.4(PCSK9):c.1681+64G>A rs483462 0.62233
NM_174936.4(PCSK9):c.799+64C>A rs494198 0.60378
NM_174936.4(PCSK9):c.799+3A>G rs2495477 0.49156
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_174936.4(PCSK9):c.657+114C>A rs7552350 0.16742
NM_174936.4(PCSK9):c.657+76C>A rs11806638 0.13140
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_174936.4(PCSK9):c.207+209C>T rs11583723 0.09478
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_174936.4(PCSK9):c.1681+63C>T rs45439391 0.05146
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.658-36G>A rs11800265 0.03888
NM_174936.4(PCSK9):c.*614C>T rs17111557 0.03123
NM_174936.4(PCSK9):c.*414C>T rs13376071 0.03076
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
NM_174936.4(PCSK9):c.*345C>T rs17111555 0.02424
NM_174936.4(PCSK9):c.*75C>T rs28362287 0.02377
NM_174936.4(PCSK9):c.*444G>C rs28362288 0.01963
NM_174936.4(PCSK9):c.1504-16C>T rs28362269 0.01510
NM_174936.4(PCSK9):c.*849T>C rs28362292 0.01415
NM_174936.4(PCSK9):c.-287G>A rs72658888 0.00941
NM_174936.4(PCSK9):c.1326C>T (p.Ala442=) rs28362262 0.00856
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_174936.4(PCSK9):c.-26G>A rs28362202 0.00715
NM_174936.4(PCSK9):c.1863+11C>G rs72646526 0.00543
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=) rs28362268 0.00488
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=) rs146960060 0.00289
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_174936.4(PCSK9):c.1681+17G>A rs200529774 0.00238
NM_174936.4(PCSK9):c.753C>T (p.Arg251=) rs28385710 0.00219
NM_174936.4(PCSK9):c.225T>C (p.Pro75=) rs146563151 0.00191
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
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.1929C>T (p.His643=) rs145770391 0.00084
NM_174936.4(PCSK9):c.*1052C>T rs149837083 0.00079
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
NM_174936.4(PCSK9):c.657+7A>C rs72646506 0.00049
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.1504-7C>T rs72646520 0.00046
NM_174936.4(PCSK9):c.*1151del rs563024336 0.00045
NM_174936.4(PCSK9):c.1864-13C>T rs147470944 0.00033
NM_174936.4(PCSK9):c.1944C>T (p.Tyr648=) rs138178437 0.00033
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 0.00033
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
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.1773C>G (p.His591Gln) rs529912877 0.00014
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) rs151193009 0.00014
NM_174936.4(PCSK9):c.1355-16C>G rs28385713 0.00012
NM_174936.4(PCSK9):c.384C>T (p.Gly128=) rs72646503 0.00011
NM_174936.4(PCSK9):c.276G>A (p.Glu92=) rs147865087 0.00009
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.429C>T (p.Ile143=) rs368511429 0.00006
NM_174936.4(PCSK9):c.657+8C>T rs376502208 0.00006
NM_174936.4(PCSK9):c.939C>G (p.Thr313=) rs534113572 0.00006
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=) rs199815786 0.00005
NM_174936.4(PCSK9):c.1681+10T>C rs181296942 0.00004
NM_174936.4(PCSK9):c.791C>T (p.Thr264Ile) rs201789841 0.00003
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.*265C>T rs368297335 0.00001
NM_174936.4(PCSK9):c.1560C>T (p.Val520=) rs542863545 0.00001
NM_174936.4(PCSK9):c.341T>C (p.Val114Ala) rs775988212 0.00001
GRCh37/hg19 1p32.3(chr1:55518371-55529332)x1
GRCh37/hg19 1p32.3(chr1:55518418-55529828)x1
GRCh37/hg19 1p32.3(chr1:55521713-55529228)x1
NM_174936.4(PCSK9):c.-168C>A rs1553135350
NM_174936.4(PCSK9):c.-245G>T rs28362201
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.1420_1422delinsATT (p.Val474Ile) rs1644734137
NM_174936.4(PCSK9):c.1503+20GT[16] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[17] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[18] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[19] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[20] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[21] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[24] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[25] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[27] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[28] rs35115360
NM_174936.4(PCSK9):c.1504-5C>G rs763241481
NM_174936.4(PCSK9):c.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1682-3dup rs749072203
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.250G>A (p.Glu84Lys) rs1553135931
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
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.45GCT[8] (p.Leu23dup) rs35574083
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs) rs755197912
NM_174936.4(PCSK9):c.657+82G>A rs625619
NM_174936.4(PCSK9):c.799+20G>A
NM_174936.4(PCSK9):c.800-17G>T rs200551844
NM_174936.4(PCSK9):c.996+37_996+43del
NM_174936.4(PCSK9):c.996+44A>T

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