ClinVar Miner

List of variants in gene PCCB reported as uncertain significance for not provided

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209 0.00163
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201 0.00076
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302 0.00054
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_000532.5(PCCB):c.303+8T>A rs199769617 0.00021
NM_000532.5(PCCB):c.250A>G (p.Met84Val) rs201950515 0.00012
NM_000532.5(PCCB):c.1154A>G (p.Asn385Ser) rs151078515 0.00010
NM_000532.5(PCCB):c.1352C>T (p.Thr451Ile) rs145135400 0.00005
NM_000532.5(PCCB):c.475A>G (p.Asn159Asp) rs373189621 0.00003
NM_000532.5(PCCB):c.131G>A (p.Arg44Gln) rs375014273 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000532.5(PCCB):c.1043A>G (p.Asn348Ser) rs747309318 0.00001
NM_000532.5(PCCB):c.1384G>A (p.Val462Ile) rs796052026 0.00001
NM_000532.5(PCCB):c.704C>T (p.Thr235Ile) rs1410754943 0.00001
NM_000532.5(PCCB):c.1027G>C (p.Gly343Arg) rs765394399
NM_000532.5(PCCB):c.1169C>T (p.Thr390Ile) rs201880353
NM_000532.5(PCCB):c.1250A>G (p.Tyr417Cys) rs768882976
NM_000532.5(PCCB):c.1262A>G (p.Glu421Gly) rs1560033862
NM_000532.5(PCCB):c.1280T>G (p.Val427Gly)
NM_000532.5(PCCB):c.1355A>C (p.Asn452Thr) rs746240889
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.579T>G (p.Ile193Met) rs2108181900
NM_000532.5(PCCB):c.617A>G (p.Tyr206Cys) rs779033674
NM_000532.5(PCCB):c.877G>A (p.Asp293Asn) rs183013046
NM_000532.5(PCCB):c.895G>T (p.Val299Phe) rs794727960

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