ClinVar Miner

List of variants reported as likely pathogenic by Santos-Cortez Lab,University of Colorado School of Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_000091.4(COL4A3):c.764C>T (p.Thr255Met) rs573527081
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001145809.2(MYH14):c.2971G>A (p.Glu991Lys) rs367588704
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434
NM_016239.4(MYO15A):c.263C>T (p.Thr88Met) rs773648511
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_144670.6(A2ML1):c.10C>T (p.Gln4Ter) rs1409944554
NM_144672.4(OTOA):c.2301+1G>T rs1567396832

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.