ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Genomics England Pilot Project, Genomics England

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln) rs2063162114
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs) rs863224153

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