List of variants reported as likely pathogenic for Pyruvate dehydrogenase E1-alpha deficiency

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Total variants: 16

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HGVS	dbSNP
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)	rs1157736285
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000284.4(PDHA1):c.291+1_418+1dup
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)	rs1569190422
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)	rs1555933954
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)	rs1131692230
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	rs1555934165
NM_000284.4(PDHA1):c.57+2531T>C
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	rs137853254
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	rs1272572107
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)	rs1602227679
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)	rs1569191879
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)	rs863224153
NM_001166158.1(PDHX):c.-197del	rs1158194122

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