List of variants reported as benign for Pyruvate dehydrogenase E2 deficiency by Genome-Nilou Lab

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	rs627441	0.51169
NM_001931.5(DLAT):c.128C>T (p.Ala43Val)	rs2303436	0.32827
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn)	rs10891314	0.32172
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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