ClinVar Miner

List of variants in gene PCCB reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.967-46A>G rs9833162 0.36992
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_000532.5(PCCB):c.372+31T>C rs16843829 0.00526
NM_000532.5(PCCB):c.1499-48A>G rs144001285 0.00234
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.763+10C>G rs180982841 0.00054
NM_000532.5(PCCB):c.1485T>G (p.Pro495=) rs151094095 0.00039
NM_000532.5(PCCB):c.654+3A>C rs199886085 0.00014
NM_000532.5(PCCB):c.544-20T>C rs370010917 0.00011
NM_000532.5(PCCB):c.885-4A>C rs535943678 0.00009
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852 0.00008
NM_000532.5(PCCB):c.764-3T>C rs147939913 0.00004
NM_000532.5(PCCB):c.967-14A>G rs1011978513 0.00003
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000532.5(PCCB):c.1309G>A (p.Gly437Ser) rs1349202366 0.00001
NM_000532.5(PCCB):c.734G>A (p.Gly245Asp) rs778242891 0.00001
NM_000532.5(PCCB):c.888C>T (p.Asp296=) rs753285409 0.00001
NM_000532.5(PCCB):c.*4A>G
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) rs1935374974
NM_000532.5(PCCB):c.1379T>C (p.Ile460Thr)
NM_000532.5(PCCB):c.1478del (p.Pro493fs)
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.467T>C (p.Ile156Thr) rs1559998737

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