ClinVar Miner

List of variants in gene PCSK9 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.-287G>A rs72658888 0.00941
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_174936.4(PCSK9):c.*171C>T rs557622245 0.00459
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.847C>A (p.Leu283Met) rs72646510 0.00055
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 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.399+4A>G rs376653409 0.00029
NM_174936.4(PCSK9):c.-331C>A rs778796405 0.00026
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.1069C>T (p.Arg357Cys) rs148562777 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.1173C>T (p.His391=) rs149097297 0.00007
NM_174936.4(PCSK9):c.609C>T (p.Thr203=) rs200856421 0.00007
NM_174936.4(PCSK9):c.1227C>T (p.Ala409=) rs146924245 0.00006
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
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.1812A>C (p.Pro604=) rs777190873 0.00001
NM_174936.4(PCSK9):c.636C>T (p.Asp212=) rs757510932 0.00001
NM_174936.4(PCSK9):c.1004del (p.Thr335fs)
NM_174936.4(PCSK9):c.108C>T (p.Gly36=)
NM_174936.4(PCSK9):c.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.2064C>T (p.Ser688=)
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.762C>T (p.Asn254=) rs915006256
NM_174936.4(PCSK9):c.996+37_996+43del
NM_174936.4(PCSK9):c.996+44A>T

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