ClinVar Miner

List of variants in gene PDHX reported as not provided for Pyruvate dehydrogenase E3-binding protein deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.479G>A (p.Arg160His)	rs747386411	0.00002
NM_003477.3(PDHX):c.794C>T (p.Thr265Ile)	rs183059121

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