ClinVar Miner

List of variants in gene PCCA reported as uncertain significance by Genome-Nilou Lab

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Total variants: 12
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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.1730A>G (p.Asn577Ser) rs887791543 0.00003
NM_000282.4(PCCA):c.2150C>T (p.Thr717Ile) rs548026367 0.00002
NM_000282.4(PCCA):c.1477C>T (p.Arg493Cys) rs753955254 0.00001
NM_000282.4(PCCA):c.2173G>A (p.Val725Met) rs747593363 0.00001
NM_000282.4(PCCA):c.681A>C (p.Lys227Asn) rs749118295 0.00001
NM_000282.4(PCCA):c.1162G>T (p.Asp388Tyr) rs2152684002
NM_000282.4(PCCA):c.1461G>C (p.Glu487Asp) rs767997785
NM_000282.4(PCCA):c.1828A>G (p.Thr610Ala) rs749767976
NM_000282.4(PCCA):c.764A>G (p.Asp255Gly) rs746776657
NM_000282.4(PCCA):c.895G>A (p.Val299Met) rs1188239325
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771

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