ClinVar Miner

List of variants in gene RAB3GAP1 studied for Warburg micro syndrome

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_001172435.1(RAB3GAP1):c.*1941G>T rs2305247 0.06411
NM_012233.2(RAB3GAP1):c.-53C>G rs78560065 0.00503
NM_012233.3(RAB3GAP1):c.*283C>T rs765003230 0.00001
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*1208dup rs200869351
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.*985dup rs370069043
NM_012233.3(RAB3GAP1):c.297del (p.Gln99fs) rs2104879312
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) rs779596900

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