List of variants reported as pathogenic for pyruvate dehydrogenase deficiency by Baylor Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)	rs121964992	0.00006
NM_000925.4(PDHB):c.301A>G (p.Met101Val)	rs747573712	0.00003
NM_000108.5(DLD):c.946C>T (p.Arg316Ter)	rs748682601	0.00002
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)	rs753234219	0.00001
NM_000108.5(DLD):c.1416_1422del (p.Tyr473fs)	rs1214130226
NM_000108.5(DLD):c.184C>T (p.Gln62Ter)
NM_000284.4(PDHA1):c.1026_1039del (p.Arg343fs)	rs1569194036
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)	rs2063245185
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	rs1569190962
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	rs1555933963
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	rs1569191372
NM_000284.4(PDHA1):c.899+2T>A	rs2063213491
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	rs137853252

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