ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.1088A>C (p.Glu363Ala)
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter) rs137853259

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