ClinVar Miner

List of variants reported as benign for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Invitae

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_022445.4(TPK1):c.663C>T (p.Tyr221=) rs113536847 0.00234
NM_022445.4(TPK1):c.259-20dup rs771212575
NM_022445.4(TPK1):c.614-13del rs539336947

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