ClinVar Miner

List of variants in gene COL4A5 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_000495.5(COL4A5):c.1032+17del rs761615270
NM_000495.5(COL4A5):c.1033-15del rs104886089
NM_000495.5(COL4A5):c.1095G>C (p.Gly365=) rs2272945
NM_000495.5(COL4A5):c.1331T>G (p.Ile444Ser) rs2272946
NM_000495.5(COL4A5):c.1588-13T>G rs201708502
NM_000495.5(COL4A5):c.2055T>C (p.Leu685=) rs7884085
NM_000495.5(COL4A5):c.2349G>A (p.Pro783=) rs3747408
NM_000495.5(COL4A5):c.2696G>A (p.Gly899Asp) rs281874702
NM_000495.5(COL4A5):c.2768-11A>G rs1006269
NM_000495.5(COL4A5):c.2821G>C (p.Gly941Arg) rs104886196
NM_000495.5(COL4A5):c.3257G>T (p.Gly1086Val) rs104886232
NM_000495.5(COL4A5):c.3513A>G (p.Gln1171=) rs2273051
NM_000495.5(COL4A5):c.609+21T>C rs6622333
NM_000495.5(COL4A5):c.619G>C (p.Gly207Arg) rs1569490379
NM_000495.5(COL4A5):c.800G>T (p.Gly267Val) rs1556406775
NM_000495.5(COL4A5):c.902G>A (p.Gly301Asp) rs1569491075

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.