List of variants studied for Pyruvate dehydrogenase phosphatase deficiency

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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_018444.4(PDP1):c.*36T>C	rs4735258	0.42976
NM_000925.4(PDHB):c.438G>A (p.Gly146=)	rs1126551	0.30058
NM_018444.4(PDP1):c.1649_1650insG	rs886063184	0.00099
NM_000925.4(PDHB):c.501G>T (p.Gly167=)	rs759053641	0.00009
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)	rs202185395	0.00006
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)	rs374758737	0.00005
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)	rs749767366	0.00002
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)	rs761614417	0.00001
NM_018444.3(PDP1):c.-273T>A	rs4469422
NM_018444.4(PDP1):c.*1661del	rs60316663
NM_018444.4(PDP1):c.*724del	rs886063179
NM_018444.4(PDP1):c.*898CTT[1]	rs756226872
NM_018444.4(PDP1):c.277G>T (p.Glu93Ter)	rs267606938
NM_018444.4(PDP1):c.500dup (p.Leu167fs)	rs1810312864
NM_018444.4(PDP1):c.851_853del (p.Leu284del)	rs1554572756

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