ClinVar Miner

List of variants in gene PCCA reported by Mendelics

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Gene type:
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Total variants: 5
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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.1118T>A (p.Met373Lys) rs121964958 0.00001
NM_000282.4(PCCA):c.1994dup (p.Met666fs) rs1323994245
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del) rs2152478820
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381

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