List of variants reported as benign for pyruvate dehydrogenase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)	rs11553595	0.04510
NM_000108.5(DLD):c.685-14T>A	rs80111449	0.02691
NM_003477.3(PDHX):c.531C>T (p.Pro177=)	rs76486106	0.01781
NM_003477.3(PDHX):c.438C>T (p.Asp146=)	rs75182779	0.01749
NM_000108.5(DLD):c.249T>C (p.Val83=)	rs2228664	0.00985
NM_000108.5(DLD):c.1422A>C (p.Gly474=)	rs34453495	0.00918
NM_003477.3(PDHX):c.957G>A (p.Leu319=)	rs36047324	0.00717
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	rs61757217	0.00689
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)	rs35560997	0.00574
NM_000108.5(DLD):c.543A>T (p.Ile181=)	rs61749952	0.00461

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