ClinVar Miner

List of variants studied 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

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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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