List of variants reported as pathogenic for pyruvate dehydrogenase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	rs121964992	0.00006
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)	rs753234219	0.00001
NM_000108.5(DLD):c.875+1G>A	rs1328820332	0.00001
NM_001931.5(DLAT):c.412G>T (p.Glu138Ter)	rs781991355	0.00001
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.930AAG[1] (p.Arg311del)	rs1555935223
NM_001931.5(DLAT):c.1303C>T (p.Arg435Ter)
NM_003477.3(PDHX):c.1231C>T (p.Gln411Ter)	rs758020436
NM_003477.3(PDHX):c.419_420del (p.His140fs)
NM_006859.4(LIAS):c.440dup (p.Thr148fs)	rs1744706299

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