ClinVar Miner

List of variants studied for congenital anomaly of the great arteries by CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NM_000540.2(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829
NM_001270974.2(HYDIN):c.10816G>T (p.Gly3606Ter) rs1567744830
NM_001270974.2(HYDIN):c.6631G>A (p.Asp2211Asn)
NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)
NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)
NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314

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.