ClinVar Miner

List of variants studied for Pyruvate dehydrogenase phosphatase deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 5
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HGVS dbSNP
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

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