ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Genomic Medicine Lab, University of California San Francisco

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro) rs1157736285
NM_000284.4(PDHA1):c.133delinsATTTCTGGG (p.Arg45fs)
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys) rs137853252

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