ClinVar Miner

List of variants reported as pathogenic for pyruvate dehydrogenase deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001931.5(DLAT):c.976-1G>A	rs367875541	0.00003
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	rs398123300

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