ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP
NM_001128849.1(SMARCA4):c.1757_1760delAGAA (p.Lys586Argfs) rs1342399494
NM_001128849.1(SMARCA4):c.2287G>T (p.Glu763Ter) rs1555774631
NM_001128849.1(SMARCA4):c.2654G>A (p.Arg885His) rs1064794284
NM_001128849.1(SMARCA4):c.2828T>G (p.Phe943Cys) rs1555778828
NM_001128849.1(SMARCA4):c.3556G>A (p.Ala1186Thr) rs1085307556
NM_001128849.1(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_001128849.1(SMARCA4):c.4622delA (p.Lys1541Argfs) rs1555795091
NM_001128849.1(SMARCA4):c.788dup (p.Gly264Argfs) rs1555754177
NM_003072.3(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227

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.