ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)	rs2063246734
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)	rs2147180839
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	rs2147184502

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