ClinVar Miner

List of variants reported as benign for Pyruvate dehydrogenase E1-beta deficiency by Illumina Laboratory Services, Illumina

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_000925.4(PDHB):c.*92C>A rs4228

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