ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase complex deficiency by ClinGen Mitochondrial Disease Nuclear and Mitochondrial Variant Curation Expert Panel, ClinGen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.795A>G (p.Ala265=)	rs1126565	0.28594
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu)	rs2229137	0.00715
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp)	rs2228067	0.00124

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