ClinVar Miner

List of variants studied for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_022445.4(TPK1):c.576T>G (p.Cys192Trp) rs1554523224

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