List of variants in gene combination LOC130005549, PDHX reported as uncertain significance 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.-7C>T	rs751680964	0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His)	rs387906998	0.00001
NM_003477.3(PDHX):c.-27C>T	rs529801753
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)	rs200419151
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)

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