ClinVar Miner

List of variants in gene PCSK9 reported as benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_174936.4(PCSK9):c.705C>T (p.Ser235=) rs7552471 0.02435
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.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.753C>T (p.Arg251=) rs28385710 0.00219
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.1851C>T (p.Ala617=) rs140364657 0.00076
NM_174936.4(PCSK9):c.169G>A (p.Glu57Lys) rs145886902 0.00067
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.277C>T (p.Arg93Cys) rs151193009 0.00014
NM_174936.4(PCSK9):c.276G>A (p.Glu92=) rs147865087 0.00009
NM_174936.4(PCSK9):c.609C>T (p.Thr203=) rs200856421 0.00007
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.1560C>T (p.Val520=) rs542863545 0.00001
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.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
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

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