ClinVar Miner

List of variants studied for Warburg micro syndrome 1 by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001172435.2(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_001172435.2(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_001172435.2(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_001172435.2(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_001172435.2(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_001172435.2(RAB3GAP1):c.2822del (p.Pro941fs) rs730882182
NM_001172435.2(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_001172435.2(RAB3GAP1):c.649-2A>G rs730882183
NM_001172435.2(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_001172435.2(RAB3GAP1):c.748+1G>A rs587776651
NM_001172435.2(RAB3GAP1):c.899+1G>A rs587777152

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.