ClinVar Miner

List of variants in gene COL11A1 reported as uncertain significance for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
GRCh37/hg19 1p21.1(chr1:103401032-103511235)
GRCh37/hg19 1p21.1(chr1:103474885-103519961)
NM_001854.4(COL11A1):c.106+8A>G
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1792-17T>C rs2101851501
NM_001854.4(COL11A1):c.1945-19C>T rs1571000550
NM_001854.4(COL11A1):c.2196+17T>C
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His) rs2101304072
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp) rs778331804

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.