List of variants reported as pathogenic for Coffin-Siris syndrome 6 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000012.11:g.46125066_46230365del
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)	rs796052242
NM_152641.4(ARID2):c.156del (p.Arg53fs)	rs1555139310
NM_152641.4(ARID2):c.2536del (p.Val846fs)	rs796052240
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs)	rs1555155252
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)	rs772995852
NM_152641.4(ARID2):c.4441del (p.His1481fs)	rs796052241

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.