List of variants in gene combination LOC130005549, PDHX reported as pathogenic 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: 3

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.44G>A (p.Arg15His)	rs387906998	0.00001
NM_003477.2(PDHX):c.78_162del
NM_003477.3(PDHX):c.88_91del (p.Lys30fs)	rs724159828

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