List of variants in gene PDHB reported as pathogenic for carbohydrate metabolism disease

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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
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)	rs28933391
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
NM_000925.4(PDHB):c.301A>G (p.Met101Val)
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)	rs28935769
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)

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