ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.4(SMARCA4):c.1633_1635AAG[1] (p.Lys546del) rs876657378
NM_003072.4(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.4(SMARCA4):c.2617-3C>G rs587777463
NM_003072.4(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.4(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.4(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.4(SMARCA4):c.3239G>A (p.Gly1080Asp) rs587777464
NM_003072.4(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003072.4(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.4(SMARCA4):c.4170+1G>A rs587777461
NM_003072.4(SMARCA4):c.643C>T (p.Gln215Ter) rs587777462

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.