List of variants in gene combination ITGA2, MOCS2 reported as likely benign for Combined molybdoflavoprotein enzyme deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
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_002203.4(ITGA2):c.*1764del	rs3212655
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.3763_3764del	rs145759303
NM_002203.4(ITGA2):c.*4045AGT[1]	rs71727762
NM_002203.4(ITGA2):c.760_761insTTAT	rs3212652

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.