ClinVar Miner

List of variants studied for Childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Revvity Omics, Revvity

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Total variants: 4

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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.620A>T (p.Asp207Val)	rs747262651	0.00001
NM_022445.4(TPK1):c.20C>T (p.Pro7Leu)
NM_022445.4(TPK1):c.593C>T (p.Thr198Ile)

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