ClinVar Miner

List of variants in gene SMARCA4 reported as likely benign for Rhabdoid tumor predisposition syndrome 2; Intellectual disability, autosomal dominant 16; Otosclerosis 12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.960C>T (p.Pro320=) rs531365419 0.00009
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00007
NM_003072.5(SMARCA4):c.3894C>T (p.Asp1298=) rs373041389 0.00002
NM_003072.5(SMARCA4):c.2109G>T (p.Ala703=) rs376562928

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.