ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate carboxylase deficiency

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Total variants: 15
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NM_001040716.2(PC):c.1022+1G>A rs1555025823
NM_001040716.2(PC):c.1368+1G>A rs755640269
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145
NM_001040716.2(PC):c.3141_3142delinsA (p.Phe1048fs) rs1555014332
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)
NM_001040716.2(PC):c.3359_3362dup (p.Ile1123fs) rs1555013840
NM_001040716.2(PC):c.52C>T (p.Arg18Ter) rs144583275
NM_001040716.2(PC):c.633+2T>C rs763433647
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001040716.2(PC):c.815A>G (p.Gln272Arg) rs1591186383

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