ClinVar Miner

List of variants studied for Pyruvate dehydrogenase E2 deficiency by Baylor Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr) rs1555179247
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu) rs1862832629

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