ClinVar Miner

List of variants studied for Pyruvate carboxylase deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln) rs780759271
NM_001040716.2(PC):c.3306dup (p.Lys1103fs) rs1324931037

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