List of variants reported as likely pathogenic for pyruvate dehydrogenase deficiency by Revvity Omics, Revvity

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.803_804del (p.Gln268fs)	rs764611160	0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)	rs119103240	0.00001
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)	rs747810875
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)	rs397514649
NM_000108.5(DLD):c.439-1G>C
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	rs2147180851
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	rs2147184540
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
NM_003477.3(PDHX):c.793dup (p.Thr265fs)	rs1057518180

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