ClinVar Miner

Variants in gene PCCA with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528 0.00088
NM_000282.4(PCCA):c.1430G>T (p.Gly477Val) rs776355907 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.183+4_183+7del rs1555342581
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2062T>C (p.Cys688Arg) rs774949844
NM_000282.4(PCCA):c.615dup (p.Val206fs) rs1566767338

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