ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Mendelics

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Total variants: 4
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NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln) rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs) rs1602228017
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997

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