ClinVar Miner

List of variants reported as uncertain significance for Pyruvate dehydrogenase phosphatase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_018444.4(PDP1):c.1649_1650insG	rs886063184	0.00099
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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