ClinVar Miner

List of variants in gene TRAPPC6B studied for neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001079537.2(TRAPPC6B):c.445+14G>A rs8003807 0.92935
NM_001079537.2(TRAPPC6B):c.268-35A>G rs12147991 0.19285
NM_001079537.2(TRAPPC6B):c.124C>T (p.Arg42Ter) rs377626365 0.00003
NM_001079537.2(TRAPPC6B):c.91C>T (p.Arg31Ter) rs1171802070 0.00001
NM_001079537.2(TRAPPC6B):c.119G>T (p.Gly40Val)
NM_001079537.2(TRAPPC6B):c.149+2T>A rs758863393
NM_001079537.2(TRAPPC6B):c.150-2A>G rs1347223331
NM_001079537.2(TRAPPC6B):c.268-2_268-1del
NM_001079537.2(TRAPPC6B):c.71A>G (p.Gln24Arg) rs1371436271

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.