ClinVar Miner

List of variants in gene PCSK9 reported as likely benign for anemia (disease)

Included ClinVar conditions (262):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_174936.3(PCSK9):c.*1255_*1258delAAAC rs368406783
NM_174936.3(PCSK9):c.*345C>T rs17111555
NM_174936.3(PCSK9):c.*414C>T rs13376071
NM_174936.3(PCSK9):c.*444G>C rs28362288
NM_174936.3(PCSK9):c.*448dupG rs72646533
NM_174936.3(PCSK9):c.*537delT rs72646535
NM_174936.3(PCSK9):c.*571C>T rs662145
NM_174936.3(PCSK9):c.*614C>T rs17111557
NM_174936.3(PCSK9):c.*75C>T rs28362287
NM_174936.3(PCSK9):c.*849T>C rs28362292
NM_174936.3(PCSK9):c.-245G>T rs28362201
NM_174936.3(PCSK9):c.-26G>A rs28362202
NM_174936.3(PCSK9):c.-64C>T rs45448095
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_174936.3(PCSK9):c.1326C>T (p.Ala442=) rs28362262
NM_174936.3(PCSK9):c.1327G>A (p.Ala443Thr) rs28362263
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.705C>T (p.Ser235=) rs7552471
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.799+3A>G rs2495477

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