List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by Baylor Genetics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.292-23A>G	rs1057518702	0.00001
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)	rs755945768	0.00001
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.265G>A (p.Gly89Ser)	rs1569190092
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)	rs1057518695
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.821G>C (p.Arg274Thr)	rs2063192867
NM_000284.4(PDHA1):c.899+2T>A	rs2063213491
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	rs137853252

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