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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)	rs35560997	0.00574
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)	rs768396832	0.00006
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)	rs2147189334
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	rs2063162114
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	rs794729213
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)	rs1602228017

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