ClinVar Miner

List of variants in gene RAB3GAP1 reported as uncertain significance for Warburg micro syndrome

Included ClinVar conditions (6):
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Gene type:
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Total variants: 24
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HGVS dbSNP
NM_012233.3(RAB3GAP1):c.-4C>T
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.1268C>G (p.Pro423Arg) rs143010678
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys)
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) rs200175711
NM_012233.3(RAB3GAP1):c.1924-3C>T
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) rs587780426
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) rs886054853
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.2540G>A (p.Arg847Gln)
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.850A>G (p.Thr284Ala)
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) rs776999297
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) rs143078664

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