ClinVar Miner

List of variants in gene PDP1 studied for Pyruvate dehydrogenase phosphatase deficiency

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Total variants: 8
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NM_018444.3(PDP1):c.-273T>A rs4469422
NM_018444.4(PDP1):c.*1649_*1650insG rs886063184
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)
NM_018444.4(PDP1):c.851_853del (p.Leu284del) rs1554572756

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