ClinVar Miner

List of variants in gene PCSK9 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn) rs146471967 0.00086
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser) rs533273863 0.00008
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp) rs757143429 0.00006
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro) rs746115963 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_174936.4(PCSK9):c.658-9G>A rs757194881 0.00006
NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr) rs1026987232 0.00005
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.1863+1G>A rs765335983 0.00004
NM_174936.4(PCSK9):c.278G>A (p.Arg93His) rs763855534 0.00003
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile) rs1235101437 0.00002
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val) rs376066497 0.00001
NM_174936.4(PCSK9):c.1192A>G (p.Met398Val) rs766010409 0.00001
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr) rs537114569 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_174936.4(PCSK9):c.812T>C (p.Ile271Thr) rs753657596 0.00001
NM_174936.4(PCSK9):c.1133_1134delinsAA (p.Cys378Ter) rs1553137557
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1354+12G>A
NM_174936.4(PCSK9):c.1461_1462del (p.Ser488fs)
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1547G>A (p.Gly516Glu) rs891322948
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.173A>G (p.His58Arg) rs1644586889
NM_174936.4(PCSK9):c.1863+18G>T
NM_174936.4(PCSK9):c.399+10C>T rs112710386
NM_174936.4(PCSK9):c.399+6C>A
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.524-13T>A
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
NM_174936.4(PCSK9):c.573T>G (p.Ser191Arg)
NM_174936.4(PCSK9):c.657G>A (p.Gln219=) rs1431852989
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
NM_174936.4(PCSK9):c.800-17G>T rs200551844
NM_174936.4(PCSK9):c.85del (p.Arg29fs) rs1553135406

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