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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

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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