ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase E1-alpha deficiency by Revvity Omics, Revvity

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.10_12del	rs752082232
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)

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