ClinVar Miner

List of variants studied for pyruvate dehydrogenase E3 deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (1):
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Total variants: 8
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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.1123G>A (p.Glu375Lys) rs121964992 0.00006
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000108.5(DLD):c.104dup (p.Tyr35Ter) rs753234219 0.00001
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu) rs121964988 0.00001
NM_000108.5(DLD):c.875+1G>A rs1328820332 0.00001
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr) rs2116271469
NM_000108.5(DLD):c.268-1G>A

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