ClinVar Miner

List of variants studied for Deafness, autosomal recessive 53 by Nilou-Genome Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_080680.3(COL11A2):c.1360-7A>C rs3129201
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908
NM_080680.3(COL11A2):c.2484+22C>G rs2744512
NM_080680.3(COL11A2):c.2628+3G>A rs970901
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785
NM_080680.3(COL11A2):c.3150+15A>C rs2855436
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910
NM_080680.3(COL11A2):c.3313-11C>T rs2855437
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911
NM_080680.3(COL11A2):c.3853-39G>A rs2855448
NM_080680.3(COL11A2):c.4339-49G>T rs2855453
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.877-34C>T rs116165521
NM_080680.3(COL11A2):c.877-4T>A rs1799907

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.