ClinVar Miner

List of variants in gene PDP1 reported as pathogenic for Pyruvate dehydrogenase phosphatase deficiency

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Total variants: 3
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HGVS dbSNP gnomAD frequency
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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