ClinVar Miner

List of variants in gene RAB3GAP2 reported as uncertain significance by GeneDx

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro) rs111859466 0.00047
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742 0.00013
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 0.00006
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) rs200632298 0.00006
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) rs562096116 0.00006
NM_012414.4(RAB3GAP2):c.2878A>G (p.Asn960Asp) rs376965360 0.00006
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.1792A>C (p.Ile598Leu) rs587780427 0.00002
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) rs1029887970 0.00002
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) rs1057524739 0.00002
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) rs146337693 0.00002
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) rs371921545 0.00002
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1613C>T (p.Pro538Leu) rs201995018 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.1994A>C (p.Asp665Ala) rs368311514 0.00001
NM_012414.4(RAB3GAP2):c.2137T>G (p.Phe713Val) rs1182001725 0.00001
NM_012414.4(RAB3GAP2):c.2461T>C (p.Trp821Arg) rs778885650 0.00001
NM_012414.4(RAB3GAP2):c.3797G>A (p.Ser1266Asn) rs373515509 0.00001
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) rs747224775 0.00001
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 0.00001
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.130T>G (p.Trp44Gly) rs2102891734
NM_012414.4(RAB3GAP2):c.1325G>A (p.Arg442Lys) rs2102869763
NM_012414.4(RAB3GAP2):c.1523A>G (p.Asn508Ser)
NM_012414.4(RAB3GAP2):c.1762C>T (p.Pro588Ser) rs181502287
NM_012414.4(RAB3GAP2):c.2005G>T (p.Ala669Ser)
NM_012414.4(RAB3GAP2):c.2143G>A (p.Glu715Lys)
NM_012414.4(RAB3GAP2):c.2807-8A>G
NM_012414.4(RAB3GAP2):c.3031G>A (p.Val1011Ile) rs1658088143
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.3961A>G (p.Thr1321Ala) rs1571871092
NM_012414.4(RAB3GAP2):c.40C>G (p.Leu14Val) rs1231404992
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
NM_012414.4(RAB3GAP2):c.5C>G (p.Ala2Gly) rs1558178728
NM_012414.4(RAB3GAP2):c.944TCT[1] (p.Phe316del) rs1558151600

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