ClinVar Miner

List of variants in gene PCSK9 reported by Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

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Gene type:
ClinVar version:
Total variants: 50
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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.1380A>G (p.Val460=) rs540796 0.82761
NM_174936.3(PCSK9):c.-861G>A rs2479409 0.65880
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.207+209C>T rs11583723 0.09478
NM_174936.4(PCSK9):c.657+9G>A rs11800243 0.03991
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_174936.4(PCSK9):c.207+5G>A rs1272703401 0.00008
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_174936.4(PCSK9):c.1119C>T (p.Ser373=) rs139683719 0.00002
NM_174936.4(PCSK9):c.397C>T (p.Leu133=) rs377361152 0.00002
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.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1503G>A (p.Glu501=) rs986151799 0.00001
NM_174936.4(PCSK9):c.658G>A (p.Ala220Thr) rs768795323 0.00001
NM_174936.4(PCSK9):c.76G>A (p.Ala26Thr) rs1553135400 0.00001
NM_174936.4(PCSK9):c.-168C>A rs1553135350
NM_174936.4(PCSK9):c.1120G>T (p.Asp374Tyr) rs137852912
NM_174936.4(PCSK9):c.1174G>A (p.Val392Met) rs1254346075
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1327G>A (p.Ala443Thr)
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1402A>G (p.Thr468Ala) rs1553137693
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_174936.4(PCSK9):c.140C>G (p.Ser47Cys) rs1372204035
NM_174936.4(PCSK9):c.1411G>T (p.Ala471Ser) rs1553137699
NM_174936.4(PCSK9):c.1420G>A (p.Val474Ile)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1979A>C (p.Asp660Ala)
NM_174936.4(PCSK9):c.2005G>C (p.Glu669Gln) rs886046435
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.248A>C (p.Lys83Thr) rs1553135930
NM_174936.4(PCSK9):c.250G>A (p.Glu84Lys) rs1553135931
NM_174936.4(PCSK9):c.323T>C (p.Leu108Pro) rs1057519691
NM_174936.4(PCSK9):c.381T>A (p.Ser127Arg) rs28942111
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
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.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.658-6G>T rs745633457
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)

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