ClinVar Miner

List of variants in gene TPK1 reported as likely pathogenic for childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Included ClinVar conditions (1):
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.185+1G>A rs747753388 0.00002
NM_022445.4(TPK1):c.119T>C (p.Leu40Pro) rs387906936 0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_022445.4(TPK1):c.116-2A>G rs2151035560
NM_022445.4(TPK1):c.179_182del (p.Arg60fs) rs1563989427
NM_022445.4(TPK1):c.19C>T (p.Pro7Ser) rs751034120
NM_022445.4(TPK1):c.224T>A (p.Ile75Asn)
NM_022445.4(TPK1):c.501+1G>T rs2150827249
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) rs1554523224
NM_022445.4(TPK1):c.664G>C (p.Asp222His) rs368458768

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