ClinVar Miner

List of variants reported as uncertain significance for auriculocondylar syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001377142.1(PLCB4):c.*469G>T rs886056986 0.00005
NM_001377142.1(PLCB4):c.*1672del rs886056991
NM_001377142.1(PLCB4):c.3409-4del rs886056984
NM_001377142.1(PLCB4):c.3496-5_3496-2del rs886056985
NM_006496.4(GNAI3):c.303+1G>A rs1648676750

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.