ClinVar Miner

List of variants in gene UNC13D reported by OMIM

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_199242.3(UNC13D):c.1389+1G>A rs777759523 0.00006
NM_199242.3(UNC13D):c.753+1G>T rs201908137 0.00003
NM_199242.3(UNC13D):c.1208T>C (p.Leu403Pro) rs121434353
NM_199242.3(UNC13D):c.1754dup (p.His586fs) rs796065026
NM_199242.3(UNC13D):c.1828_1839del (p.Arg610_Gln613del) rs796065024
NM_199242.3(UNC13D):c.216del (p.Asn73fs) rs796065025
NM_199242.3(UNC13D):c.2570T>G (p.Phe857Cys) rs121434354
NM_199242.3(UNC13D):c.766C>T (p.Arg256Ter) rs121434352

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.