ClinVar Miner

List of variants reported as uncertain significance by Fondazione Telethon, Telethon Institute of Genetics and Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.1450C>A (p.His484Asn) rs1057518990
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys) rs1586657809
NM_003070.5(SMARCA2):c.2156T>C (p.Leu719Pro) rs1586680296
NM_003070.5(SMARCA2):c.2795T>C (p.Ile932Thr) rs1586692509
NM_003070.5(SMARCA2):c.3040A>G (p.Lys1014Glu) rs1586701712

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.