ClinVar Miner

List of variants reported as pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Baylor Miraca Genetics Laboratories,

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Total variants: 4

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HGVS	dbSNP
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)	rs1569194036
NM_000284.4(PDHA1):c.292-23A>G	rs1057518702
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	rs1569190962
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	rs1569191372

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