ClinVar Miner

List of variants reported as pathogenic for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by OMIM

Included ClinVar conditions (1):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro) rs387906936 0.00001
NM_022445.4(TPK1):c.479C>T (p.Ser160Leu) rs758949475 0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser) rs371271054 0.00001
NM_022445.4(TPK1):c.148A>C (p.Asn50His) rs387906935
NM_022445.4(TPK1):c.179_182del (p.Arg60fs) rs1563989427
NM_022445.4(TPK1):c.395T>C (p.Phe132Ser) rs1417315589
NM_022445.4(TPK1):c.614-1G>A rs776874412

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