ClinVar Miner

List of variants in gene COL5A2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.4(COL5A2):c.1124G>A (p.Gly375Asp) rs886042913
NM_000393.4(COL5A2):c.1924-3T>A rs794727471
NM_000393.4(COL5A2):c.2101C>A (p.Pro701Thr) rs765785677
NM_000393.4(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.4(COL5A2):c.3202G>A (p.Gly1068Ser) rs1332988061
NM_000393.4(COL5A2):c.3209G>A (p.Arg1070His) rs373288848
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.3645_3662del18 (p.Glu1216_Gly1221del) rs1553512960
NM_000393.4(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223
NM_000393.4(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000393.4(COL5A2):c.985A>G (p.Met329Val) rs140785678

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.