List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Revvity Omics, Revvity

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.10_12del	rs752082232
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	rs863224147
NM_000284.4(PDHA1):c.1133_1140del (p.Arg378fs)	rs2147189315
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	rs794729213
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	rs2147180851
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)	rs2147184540
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	rs137853252
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	rs606231185

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