ClinVar Miner

List of variants reported as uncertain significance for COG7 congenital disorder of glycosylation by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296 0.00222
NM_153603.4(COG7):c.86C>T (p.Ala29Val) rs146918812 0.00023
NM_153603.4(COG7):c.1529T>C (p.Leu510Pro) rs202221877 0.00004
NM_153603.4(COG7):c.119T>A (p.Leu40Gln) rs775575683 0.00002
NM_153603.4(COG7):c.1482G>T (p.Leu494Phe) rs376358218 0.00002
NM_153603.4(COG7):c.109G>A (p.Ala37Thr) rs1327432623 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153603.4(COG7):c.818A>G (p.Gln273Arg) rs746662903 0.00001
NM_153603.4(COG7):c.1150G>T (p.Val384Leu) rs966821454
NM_153603.4(COG7):c.1949C>G (p.Ser650Cys) rs1963230461

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.