ClinVar Miner

List of variants in gene ADK reported as benign for amino acid metabolism disease

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006721.4(ADK):c.*648C>T rs1189553 0.82915
NM_006721.4(ADK):c.66-23911C>T rs10824095 0.74804
NM_006721.4(ADK):c.878-71T>C rs10740443 0.69570
NM_006721.4(ADK):c.727-11T>C rs12778270 0.01325
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_006721.4(ADK):c.987T>C (p.Ser329=) rs116653664 0.00468
NM_006721.4(ADK):c.1088G>A (p.Ter363=) rs148819558 0.00108
NM_006721.4(ADK):c.727-8del rs112610475

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