ClinVar Miner

List of variants in gene COL4A3 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000091.4(COL4A3):c.-134T>C rs886055734 0.00004
GRCh37/hg19 2q36.3(chr2:228093192-228185228)x1
NC_000002.11:g.(?_228029443)_(228029549_?)dup
NC_000002.11:g.(?_228029443)_(228176586_?)dup
NC_000002.11:g.(?_228104839)_(228104968_?)del
NC_000002.11:g.(?_228104839)_(228112320_?)dup
NC_000002.11:g.(?_228115836)_(228116107_?)del
NC_000002.11:g.(?_228141081)_(228142289_?)dup
NM_000091.4(COL4A3):c.-146G>C rs886055733
NM_000091.5(COL4A3):c.-81G>C rs886055735

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.