List of variants in gene PDHA1 reported as likely pathogenic for Pyruvate dehydrogenase complex deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)	rs1555935486
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.677G>A (p.Arg226His)

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