List of variants studied for Pyruvate dehydrogenase E1-alpha deficiency by 3billion

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	rs863224148
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)	rs2147174771
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	rs2147176072
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	rs199959402
NM_000284.4(PDHA1):c.46del (p.Ser16fs)	rs2147168716
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	rs1569190962
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)	rs2063174067
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)	rs606231185

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