ClinVar Miner

List of variants in gene SMARCAL1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_014140.3(SMARCAL1):c.1190T>C (p.Leu397Pro) rs1057524680
NM_014140.3(SMARCAL1):c.1483C>T (p.Gln495Ter) rs1553526228
NM_014140.3(SMARCAL1):c.1499_1500delinsTT (p.Trp500Phe) rs1553526733
NM_014140.3(SMARCAL1):c.1727T>C (p.Ile576Thr) rs138819354
NM_014140.3(SMARCAL1):c.2448C>A (p.Asp816Glu) rs1057524681
NM_014140.4(SMARCAL1):c.1499G>A (p.Trp500Ter)

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.