ClinVar Miner

List of variants studied for Combined molybdoflavoprotein enzyme deficiency by Illumina Laboratory Services, Illumina

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
NM_004531.5(MOCS2):c.*413del rs3839261 0.15118
NM_002203.4(ITGA2):c.*3918G>C rs10471829 0.11354
NM_002203.4(ITGA2):c.*2574C>G rs75427194 0.11349
NM_002203.4(ITGA2):c.*3164G>A rs7737412 0.11348
NM_002203.4(ITGA2):c.*1252G>A rs1042324 0.11343
NM_002203.4(ITGA2):c.*4098C>G rs10471830 0.10454
NM_002203.4(ITGA2):c.*2939C>T rs7700416 0.10451
NM_001358530.2(MOCS1):c.*1348_*1351dup rs397953334 0.04461
NM_004531.5(MOCS2):c.148A>G (p.Thr50Ala) rs2233213 0.03267
NM_004531.5(MOCS2):c.255A>G (p.Lys85=) rs2233216 0.03263
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_001358530.2(MOCS1):c.1687C>G (p.Gln563Glu) rs777476892 0.00004
NM_001358530.2(MOCS1):c.*423C>A rs886061387 0.00003
NM_004531.5(MOCS2):c.*171G>C rs191465075 0.00003
NM_001201427.2(DAAM2):c.*2451_*2455dup rs370863199
NM_001201427.2(DAAM2):c.*2545_*2548dup rs112997952
NM_001201427.2(DAAM2):c.*2609C>T rs886061379
NM_001201427.2(DAAM2):c.*2655ATCT[1] rs112059918
NM_001201427.2(DAAM2):c.*2655ATCT[3] rs112059918
NM_001358530.2(MOCS1):c.*1062_*1063dup rs886061382
NM_001358530.2(MOCS1):c.*1389dup rs144859841
NM_001358530.2(MOCS1):c.*1433T>A rs745650301
NM_001358530.2(MOCS1):c.*523TCCTG[4] rs138907488
NM_001358530.2(MOCS1):c.*759_*761dup rs543804008
NM_001358530.2(MOCS1):c.*771_*772dup rs886061384
NM_001358530.2(MOCS1):c.*908AATC[3] rs3839624
NM_001358530.2(MOCS1):c.*908AATC[5] rs3839624
NM_002203.4(ITGA2):c.*1764del rs3212655
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*2505CAAA[3] rs72277253
NM_002203.4(ITGA2):c.*2570C>A rs1900182
NM_002203.4(ITGA2):c.*2570C>T rs1900182
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*3763_*3764del rs145759303
NM_002203.4(ITGA2):c.*4045AGT[1] rs71727762
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002203.4(ITGA2):c.*760_*761insTTAT rs3212652
NM_004531.5(MOCS2):c.*44A>C rs367775935
NM_004531.5(MOCS2):c.346_349del (p.Val116fs) rs398122798
NM_004531.5(MOCS2):c.99-8_99-5del rs779872271

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