ClinVar Miner

List of variants in gene COL4A5 reported as uncertain significance by Research and Development, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP
NM_000495.5(COL4A5):c.*48_*49insAT rs1556464307
NM_000495.5(COL4A5):c.1499G>T (p.Gly500Val) rs1569493670
NM_000495.5(COL4A5):c.2145A>G (p.Lys715=) rs1569495067
NM_000495.5(COL4A5):c.2215C>G (p.Pro739Ala)
NM_000495.5(COL4A5):c.2245-14T>A rs1569495752
NM_000495.5(COL4A5):c.262C>T (p.Pro88Ser)
NM_000495.5(COL4A5):c.2692A>G (p.Met898Val) rs104886192
NM_000495.5(COL4A5):c.4054C>A (p.Leu1352Ile)
NM_000495.5(COL4A5):c.4228C>T (p.Arg1410Cys) rs104886270
NM_000495.5(COL4A5):c.4532G>A (p.Arg1511His) rs104886285
NM_000495.5(COL4A5):c.4549C>A (p.Pro1517Thr) rs201220208
NM_000495.5(COL4A5):c.466-17T>G rs104886415
NM_000495.5(COL4A5):c.4976+3A>G rs1569509373

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.