ClinVar Miner

List of variants in gene RAB3GAP1 reported as pathogenic for Warburg micro syndrome 1

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_001172435.2(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185
NM_001172435.2(RAB3GAP1):c.1237-2A>G rs1558792168
NM_001172435.2(RAB3GAP1):c.1310C>G (p.Ser437Ter) rs1558792256
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.1908C>G (p.Tyr636Ter)
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.2491G>T (p.Glu831Ter) rs1558805900
NM_001172435.2(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_001172435.2(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_001172435.2(RAB3GAP1):c.469G>T (p.Gly157Ter) rs1558782178
NM_001172435.2(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_001172435.2(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_001172435.2(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
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.