ClinVar Miner

List of variants in gene RAB3GAP1 studied for Warburg micro syndrome

Included ClinVar conditions (6):
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Total variants: 59
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HGVS dbSNP
NM_012233.2(RAB3GAP1):c.-53C>G rs78560065
NM_012233.3(RAB3GAP1):c.-4C>T
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_012233.3(RAB3GAP1):c.1009C>T (p.Arg337Ter) rs766629205
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211
NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu) rs886054851
NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr) rs886054852
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) rs780827916
NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp)
NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) rs201430480
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=)
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) rs143010678
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) rs75269203
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) rs1558792256
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys)
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) rs200175711
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) rs1573585099
NM_012233.3(RAB3GAP1):c.1924-3C>T
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) rs587780426
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) rs886054853
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772
NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp) rs748968368
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) rs146072589
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala) rs767842373
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln)
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=) rs757292994
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser)
NM_012233.3(RAB3GAP1):c.372A>G (p.Leu124=) rs886054850
NM_012233.3(RAB3GAP1):c.393C>T (p.Ala131=) rs779596900
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) rs1558782178
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala)
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) rs776999297
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) rs143078664

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