ClinVar Miner

List of variants reported as likely pathogenic for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_022445.4(TPK1):c.19C>T (p.Pro7Ser) rs751034120

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