ClinVar Miner

List of variants in gene RAB3GAP2 studied for Warburg micro syndrome

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00019
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 0.00009
NM_012414.4(RAB3GAP2):c.*1145del rs886046014 0.00001
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.812-6del rs35396665

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