List of variants reported as uncertain significance for Pyruvate dehydrogenase E1-alpha deficiency by Baylor Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.292-23A>G	rs1057518702	0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)	rs755945768	0.00001
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)	rs1569190092
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)	rs1057518695
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)	rs2063192867

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