ClinVar Miner

List of variants in gene PDHB reported as likely benign for Pyruvate dehydrogenase complex 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
NC_000003.12:g.58427626_58427627del	rs35161513	0.06029
NM_000925.4(PDHB):c.417T>C (p.Pro139=)	rs762644804	0.00001

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