ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E3-binding protein deficiency by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala) rs756023441 0.00001
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr) rs756801221

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