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

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=)	rs4264746	0.98352
NM_000108.5(DLD):c.439-7T>C	rs10263341	0.66181
NM_000108.5(DLD):c.199-108T>C	rs10250718	0.66040
NM_001931.5(DLAT):c.953T>C (p.Val318Ala)	rs627441	0.51169
NM_018444.4(PDP1):c.*36T>C	rs4735258	0.42976
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_000108.5(DLD):c.*18A>T	rs8721	0.31455
NM_000108.5(DLD):c.438+83G>A	rs17412104	0.31437
NM_006859.4(LIAS):c.884-14T>A	rs2125314	0.30396
NM_000925.4(PDHB):c.267+42G>A	rs62259772	0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=)	rs1126551	0.30058
NM_006859.4(LIAS):c.45+15G>A	rs2687959	0.18886
NM_000108.5(DLD):c.*28G>T	rs17154615	0.10964
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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