List of variants in gene ARID1B studied for Coffin Siris/Intellectual Disability

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: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001374828.1(ARID1B):c.3009G>A (p.Pro1003=)	rs587779742	0.00003
NM_001374828.1(ARID1B):c.1624G>A (p.Ala542Thr)	rs587779740
NM_001374828.1(ARID1B):c.4471C>T (p.Gln1491Ter)	rs587779745
NM_001374828.1(ARID1B):c.4746del (p.Pro1583fs)	rs587779746

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.