ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-beta deficiency by Pars Genome Lab

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000925.4(PDHB):c.701-64G>T rs2070662 0.72970
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000925.4(PDHB):c.793-41G>A rs62259769 0.22293
NM_000925.4(PDHB):c.935-146G>C rs6445980 0.13601
NM_000925.4(PDHB):c.701-41G>A rs4585221 0.06991

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