List of variants in gene PDHB reported as uncertain significance for Pyruvate dehydrogenase complex 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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000925.4(PDHB):c.701-3C>T	rs377063331	0.00051
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)	rs149830613	0.00050
NM_000925.4(PDHB):c.97-5G>A	rs200429396	0.00026
NM_000925.4(PDHB):c.-4C>T	rs778465584	0.00007
NM_000925.4(PDHB):c.477A>C (p.Ser159=)	rs569429778	0.00007
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)	rs201105914	0.00006
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)	rs139242990	0.00005
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)	rs777514148	0.00004
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)	rs755616546	0.00002
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)	rs148957406	0.00002
NM_000925.4(PDHB):c.*199T>G	rs886058777	0.00001
NM_000925.4(PDHB):c.*7C>G	rs374476885	0.00001
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)	rs372743787	0.00001
NM_000925.4(PDHB):c.366_367insAA	rs886058775
NM_000925.4(PDHB):c.793-19_793-14del	rs759146810
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)	rs1392622459
NM_000925.4(PDHB):c.847G>A (p.Val283Ile)	rs2062893319

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