ClinVar Miner

List of variants reported as likely benign for Pyruvate dehydrogenase E3-binding protein deficiency by Illumina Laboratory Services, Illumina

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003477.3(PDHX):c.*114A>G rs76663700 0.00931
NM_003477.3(PDHX):c.474G>A (p.Glu158=) rs148723565 0.00243
NM_003477.3(PDHX):c.47A>C (p.Tyr16Ser) rs118136428 0.00131
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716 0.00021
NM_003477.3(PDHX):c.532G>A (p.Gly178Arg) rs765182974 0.00011
NM_015957.4(APIP):c.-30T>C rs567329509 0.00006
NM_003477.2(PDHX):c.-208C>T rs555380381
NM_003477.3(PDHX):c.*904G>T rs182283782
NM_015957.4(APIP):c.57+91G>T rs561463212

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