List of variants in gene PDHA1 reported as uncertain significance for Pyruvate dehydrogenase complex deficiency

Minimum submission review status:		Collection method:
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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)	rs764996618	0.00011
NM_000284.4(PDHA1):c.870C>T (p.His290=)	rs761411007	0.00008
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)	rs373275701	0.00002
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)	rs1410654779	0.00001
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)	rs759062849	0.00001
NM_000284.4(PDHA1):c.900-2dup	rs779132922	0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)	rs755945768	0.00001
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)	rs1244401639
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)	rs2063247814
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)	rs2063189797
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)	rs1602229682

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