ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NM_000925.4(PDHB):c.*243A>C rs1126722
NM_000925.4(PDHB):c.*296C>G rs7231
NM_000925.4(PDHB):c.*353T>C rs1126735
NM_000925.4(PDHB):c.*356A>G rs1126737
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.*99C>T rs7230
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.204+9A>C rs202068841
NM_000925.4(PDHB):c.267+42G>A
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142
NM_000925.4(PDHB):c.303+16T>C rs75014325
NM_000925.4(PDHB):c.434_435delinsAG (p.Arg145Lys)
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000925.4(PDHB):c.701-41G>A
NM_000925.4(PDHB):c.701-64G>T
NM_000925.4(PDHB):c.793-41G>A
NM_000925.4(PDHB):c.935-146G>C rs6445980
NM_001173468.1(PDHB):c.-26G>A rs201243189

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