ClinVar Miner

List of variants reported as likely benign for Pyruvate dehydrogenase complex deficiency by Illumina Laboratory Services, Illumina

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000925.3(PDHB):c.*407_*408delAA rs35161513 0.06029
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241

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