ClinVar Miner

List of variants in gene combination ITGA2, MOCS2 reported as uncertain significance for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_002203.4(ITGA2):c.*3813G>A
NM_004531.5(MOCS2):c.*171G>C rs191465075
NM_004531.5(MOCS2):c.*2045G>A
NM_004531.5(MOCS2):c.*321A>G rs73756618
NM_004531.5(MOCS2):c.*44A>C rs367775935

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