ClinVar Miner

List of variants studied for adenosine kinase deficiency by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006721.4(ADK):c.726+11T>G rs45529443 0.01033
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_006721.4(ADK):c.274-9G>T rs200027642 0.00057

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