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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.*114A>G	rs76663700	0.00931
NM_003477.3(PDHX):c.474G>A (p.Glu158=)	rs148723565	0.00243
NM_003477.3(PDHX):c.242-17C>T	rs188930453	0.00040
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val)	rs147948716	0.00021
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg)	rs765182974	0.00011
NM_003477.3(PDHX):c.*904G>T	rs182283782

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