ClinVar Miner

List of variants reported as likely benign for Pyruvate dehydrogenase E1-alpha deficiency by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.396A>C (p.Arg132=)	rs757654963	0.00026
NM_000284.4(PDHA1):c.69G>A (p.Val23=)	rs770667770	0.00003
NM_000284.4(PDHA1):c.*1926G>C	rs778062708	0.00001

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