ClinVar Miner

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

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.888C>T (p.Asp296=) rs753285409 0.00001
NM_000532.5(PCCB):c.*4A>G
NM_000532.5(PCCB):c.1350T>C (p.Asp450=) rs1935374974

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