ClinVar Miner

List of variants reported as likely pathogenic for pyruvate dehydrogenase deficiency by 3billion, Medical Genetics

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	rs2147176072
NM_000284.4(PDHA1):c.46del (p.Ser16fs)	rs2147168716

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