List of variants studied for Coffin-Siris syndrome by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)	rs1554265316
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)	rs1583451146
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)	rs1554234402
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)	rs1583502875
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)	rs1451259945
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)	rs797045283
NM_006015.6(ARID1A):c.1113G>A (p.Gly371=)	rs1485078108

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.