ClinVar Miner

List of variants studied for Pyruvate dehydrogenase lipoic acid synthetase deficiency by OMIM

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Total variants: 3
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NM_006859.4(LIAS):c.475_477delinsAAA (p.Glu159Lys) rs869320760
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667

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