ClinVar Miner

List of variants in gene combination ITGA2, MOCS2 reported as benign 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: 15
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HGVS dbSNP
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2940G>A rs6898333
NM_002203.4(ITGA2):c.*2999A>G rs6880055
NM_002203.4(ITGA2):c.*3026A>G rs7719848
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3986A>C rs7725246
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*721A>C rs1109527
NM_002203.4(ITGA2):c.*894C>T rs1109526
NM_004531.5(MOCS2):c.*1872C>T
NM_004531.5(MOCS2):c.*2032G>A
NM_004531.5(MOCS2):c.*2158C>T
NM_004531.5(MOCS2):c.*2415C>T
NM_004531.5(MOCS2):c.*2582A>C
NM_004531.5(MOCS2):c.*321A>G rs73756618

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