ClinVar Miner

List of variants in gene RAB3GAP1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile) rs149010855 0.00034
NM_012233.3(RAB3GAP1):c.217T>G (p.Ser73Ala) rs372673436 0.00033
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00013
NM_012233.3(RAB3GAP1):c.-4C>T rs202050016 0.00012
NM_012233.3(RAB3GAP1):c.724T>C (p.Tyr242His) rs577915245 0.00008
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) rs587780426 0.00006
NM_012233.3(RAB3GAP1):c.2810G>A (p.Arg937Gln) rs762181144 0.00006
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) rs751620093 0.00006
NM_012233.3(RAB3GAP1):c.816C>T (p.Cys272=) rs199898437 0.00006
NM_012233.3(RAB3GAP1):c.1376A>G (p.Lys459Arg) rs772002275 0.00001
NM_012233.3(RAB3GAP1):c.301A>G (p.Met101Val) rs369370987 0.00001
NM_012233.3(RAB3GAP1):c.382G>A (p.Val128Met) rs1005718589 0.00001
NM_012233.3(RAB3GAP1):c.43A>G (p.Thr15Ala) rs1429686632

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