ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase E2 deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)	rs11553595	0.04510
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)	rs61757217	0.00689

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