ClinVar Miner

List of variants reported as benign for Familial cold autoinflammatory syndrome 3 by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002661.5(PLCG2):c.2055-8T>C rs12448130 0.99057
NM_002661.5(PLCG2):c.3314-23C>A rs4405546 0.91524
NM_002661.5(PLCG2):c.1467+38G>C rs4435248 0.75887
NM_002661.5(PLCG2):c.431+37G>C rs4341734 0.74893
NM_002661.5(PLCG2):c.1497C>T (p.Ala499=) rs1143689 0.72851
NM_002661.5(PLCG2):c.174T>C (p.Ala58=) rs1143685 0.68306
NM_002661.5(PLCG2):c.432-13T>A rs4888183 0.55511
NM_002661.5(PLCG2):c.480-22A>G rs12445580 0.54348
NM_002661.5(PLCG2):c.2236-14C>G rs12446127 0.48966
NM_002661.5(PLCG2):c.3093T>C (p.Asn1031=) rs1071644 0.39075
NM_002661.5(PLCG2):c.1149C>T (p.Asp383=) rs1143688 0.33340
NM_002661.5(PLCG2):c.692+25C>T rs11865395 0.28270
NM_002661.5(PLCG2):c.565-22del rs34761601

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.