List of variants in gene combination LOC130005549, PDHX reported as benign for Pyruvate dehydrogenase E3-binding protein deficiency

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.63C>T (p.Pro21=)	rs2956109	0.78720
NM_003477.3(PDHX):c.108T>C (p.Ser36=)	rs1049307	0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys)	rs1049306	0.19588
NM_003477.3(PDHX):c.-4C>G	rs3818401	0.12767
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly)	rs11539201	0.02438
NM_003477.3(PDHX):c.-23C>A	rs201033364	0.00068

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