ClinVar Miner

List of variants in gene ITGA2, MOCS2 studied 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: 34
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HGVS dbSNP
NM_002203.4(ITGA2):c.*1252G>A rs1042324
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2505_*2508CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*2574C>G rs75427194
NM_002203.4(ITGA2):c.*2939C>T rs7700416
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.*3164G>A rs7737412
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*3813G>A
NM_002203.4(ITGA2):c.*3918G>C rs10471829
NM_002203.4(ITGA2):c.*3986A>C rs7725246
NM_002203.4(ITGA2):c.*4045_*4047AGT[1] rs71727762
NM_002203.4(ITGA2):c.*4098C>G rs10471830
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*721A>C rs1109527
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_002203.4(ITGA2):c.*894C>T rs1109526
NM_004531.5(MOCS2):c.*171G>C rs191465075
NM_004531.5(MOCS2):c.*1872C>T
NM_004531.5(MOCS2):c.*1913G>A
NM_004531.5(MOCS2):c.*2032G>A
NM_004531.5(MOCS2):c.*2045G>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
NM_004531.5(MOCS2):c.*413del rs3839261
NM_004531.5(MOCS2):c.*44A>C rs367775935

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