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: 25

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HGVS	dbSNP	gnomAD frequency
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)	rs151247980	0.00005
NM_000925.4(PDHB):c.301A>G (p.Met101Val)	rs747573712	0.00003
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)	rs763842440	0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)	rs199983136	0.00002
NM_000925.4(PDHB):c.1030C>T (p.Pro344Ser)	rs28933391
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)	rs778727916
NM_000925.4(PDHB):c.1A>G (p.Met1Val)	rs2471374605
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)	rs373124742
NM_000925.4(PDHB):c.231T>G (p.Tyr77Ter)	rs1320317596
NM_000925.4(PDHB):c.238_239del (p.Lys80fs)	rs1390415306
NM_000925.4(PDHB):c.302T>C (p.Met101Thr)	rs2062921303
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)	rs201199166
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)	rs868788199
NM_000925.4(PDHB):c.395A>G (p.Tyr132Cys)	rs28935769
NM_000925.4(PDHB):c.478_479del (p.Gln160fs)	rs2471367755
NM_000925.4(PDHB):c.494G>C (p.Trp165Ser)	rs2062912705
NM_000925.4(PDHB):c.495G>A (p.Trp165Ter)	rs1553848441
NM_000925.4(PDHB):c.533_534delinsAA (p.Trp178Ter)	rs2471367665
NM_000925.4(PDHB):c.578del (p.Asp193fs)	rs2471367604
NM_000925.4(PDHB):c.639_655del (p.Pro214fs)	rs2471366728
NM_000925.4(PDHB):c.692_695del (p.Glu231fs)
NM_000925.4(PDHB):c.714dup (p.Val239fs)	rs2471365738
NM_000925.4(PDHB):c.716_717del (p.Val239fs)	rs772084220
NM_000925.4(PDHB):c.803del (p.Met268fs)	rs2471363904
NM_000925.4(PDHB):c.916T>C (p.Cys306Arg)	rs145876456

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