ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000284.4(PDHA1):c.1143_1145dup (p.Asn381_Gln382insHis)
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser) rs1555933963
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys) rs2147180935
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro) rs2063192428

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