ClinVar Miner

List of variants studied for pyruvate dehydrogenase E3 deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990 0.00016
NM_000108.5(DLD):c.1436A>T (p.Asp479Val) rs397514649
NM_000108.5(DLD):c.163G>A (p.Val55Ile) rs2116207217

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