ClinVar Miner

List of variants reported as pathogenic for childhood encephalopathy due to thiamine pyrophosphokinase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_022445.4(TPK1):c.501+4A>T rs375169579 0.00009
NM_022445.4(TPK1):c.426G>C (p.Leu142Phe) rs769525399 0.00004
NM_022445.4(TPK1):c.246C>A (p.Tyr82Ter) rs970696642 0.00001
NM_022445.4(TPK1):c.656A>G (p.Asn219Ser) rs371271054 0.00001
NC_000007.13:g.(?_144094333)_(144532695_?)del
NC_000007.13:g.(?_144150618)_(144532715_?)del
NC_000007.13:g.(?_144245564)_(144463064_?)del
NC_000007.13:g.(?_144245564)_(144532715_?)del
NC_000007.13:g.(?_144288496)_(144320374_?)del
NC_000007.13:g.(?_144288496)_(144345992_?)del
NC_000007.13:g.(?_144462953)_(144532695_?)del
NC_000007.13:g.(?_144532633)_(144532695_?)del
NC_000007.14:g.(?_144591403)_(144835622_?)del
NC_000007.14:g.(?_144623146)_(144682998_?)del
NC_000007.14:g.(?_144682889)_(144682998_?)del
NC_000007.14:g.(?_144682889)_(144765971_?)del
NM_022445.4(TPK1):c.191dup (p.Leu64fs)
NM_022445.4(TPK1):c.243del (p.Glu81fs) rs2150697552
NM_022445.4(TPK1):c.405del (p.Met136fs) rs2069999514
NM_022445.4(TPK1):c.44-2A>G rs863224237
NM_022445.4(TPK1):c.565G>T (p.Gly189Ter)
NM_022445.4(TPK1):c.613+1G>C rs760398697

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