List of variants reported as pathogenic for Pyruvate dehydrogenase E1-alpha deficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	rs137853250
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	rs398123300
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)	rs794727843
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)	rs137853258
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	rs606231185

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