ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E3-binding protein deficiency by Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_003477.3(PDHX):c.742C>T (p.Gln248Ter)	rs113309941	0.00001
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)	rs200189510

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