RS138439950 TK2
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What This Variant Does
"Reported as pathogenic in ClinVar for TK2 related mitochondrial depletion syndrome (myopathic form),...
Associated Conditions
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 3
Mitochondrial DNA depletion syndrome
myopathic form
Mitochondrial DNA depletion syndrome 2
Mitochondrial disease
Progressive external ophthalmoplegia with mitochondrial DNA deletions
autosomal recessive 3
Mitochondrial DNA depletion syndrome
myopathic form
Mitochondrial DNA depletion syndrome 2
Mitochondrial disease
Population Frequencies
gnomAD ALL
0%
Other Variants in TK2