ClinVar Miner

Variants in gene PCCB with conflicting interpretations "uncertain significance" and "likely pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely pathogenic) minimum review status: Submission 2 (likely pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000532.5(PCCB):c.836C>T (p.Pro279Leu) rs780837200 0.00002
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.733G>A (p.Gly245Ser) rs756414710 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455

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