ClinVar Miner

List of variants studied for Coffin-Siris syndrome by GeneReviews

Included ClinVar conditions (24):

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

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001330288.2(SMARCC2):c.1926+1G>T	rs1555221275
NM_001374828.1(ARID1B):c.1099C>T (p.Gln367Ter)	rs1583025138
NM_001374828.1(ARID1B):c.1508del (p.Asn503fs)	rs1583026682
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)	rs875989800

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.