ClinVar Miner

List of variants in gene combination LOC112533672, UNC13D reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro) rs1359661881 0.00001
NM_199242.3(UNC13D):c.2830+2del rs1287388302 0.00001
NM_199242.3(UNC13D):c.2709+1G>A rs1555600214
NM_199242.3(UNC13D):c.2710-2A>G rs910650073
NM_199242.3(UNC13D):c.2819del (p.Leu940fs)

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.