ClinVar Miner

List of variants reported for Pyruvate dehydrogenase E1-alpha deficiency by SingHealth Duke-NUS Institute of Precision Medicine

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003477.2(PDHX):c.-197delT rs1158194122 0.00003
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879

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