List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)	rs2063244761
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	rs398123300
NM_000284.4(PDHA1):c.57+2531T>C	rs2063135938
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	rs137853254
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)	rs1057518756
NM_000284.4(PDHA1):c.998_1008+20dup	rs2063233544

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