List of variants reported for Pyruvate carboxylase deficiency by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001040716.2(PC):c.1372A>G (p.Asn458Asp)	rs2135822119
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)	rs1591122325
NM_001040716.2(PC):c.1983-116C>T	rs2135805611
NM_001040716.2(PC):c.2435C>A (p.Ala812Asp)	rs2135798857
NM_001040716.2(PC):c.2606G>C (p.Gly869Ala)	rs1555015018
t(1;11)(p36.32;q13.2)

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