List of variants in gene PLCB4 studied for Auriculocondylar syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001377142.1(PLCB4):c.*563del	rs148015873	0.01013
NM_001377142.1(PLCB4):c.*469G>T	rs886056986	0.00005
NM_001377142.1(PLCB4):c.*1585dup	rs565091978
NM_001377142.1(PLCB4):c.*1672del	rs886056991
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His)	rs397514481
NM_001377142.1(PLCB4):c.3409-4del	rs886056984
NM_001377142.1(PLCB4):c.3496-5_3496-2del	rs886056985

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.