ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003

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.