ClinVar Miner

List of variants reported as uncertain significance for Warburg micro syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.*1143A>G rs865932881 0.01091
NM_012414.4(RAB3GAP2):c.*1821C>T rs144988111 0.00382
NM_012414.4(RAB3GAP2):c.*1538T>C rs143472001 0.00175
NM_012414.4(RAB3GAP2):c.*2102C>A rs149913096 0.00164
NM_012414.4(RAB3GAP2):c.-86T>C rs535968000 0.00161
NM_012414.4(RAB3GAP2):c.*78G>A rs773904586 0.00116
NM_012414.4(RAB3GAP2):c.*391C>T rs180750746 0.00105
NM_012414.4(RAB3GAP2):c.*2171A>G rs570021838 0.00103
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192 0.00088
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160 0.00065
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803 0.00044
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012414.4(RAB3GAP2):c.*2450G>T rs568052992 0.00031
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_012414.4(RAB3GAP2):c.*2176G>C rs370566079 0.00023
NM_012414.4(RAB3GAP2):c.-87A>G rs576041163 0.00023
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414 0.00023
NM_012414.4(RAB3GAP2):c.*2518A>G rs528100310 0.00022
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194 0.00019
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007 0.00011
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_012414.4(RAB3GAP2):c.*1559C>T rs962614083 0.00010
NM_012414.4(RAB3GAP2):c.*2550G>C rs886046009 0.00009
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) rs143415462 0.00009
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.*2695T>C rs1004870855 0.00007
NM_012414.4(RAB3GAP2):c.*777T>C rs1377423461 0.00006
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409 0.00005
NM_012414.4(RAB3GAP2):c.*104T>C rs1041418234 0.00004
NM_012414.4(RAB3GAP2):c.2981-7C>T rs750436297 0.00004
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595 0.00004
NM_012414.4(RAB3GAP2):c.*2347T>C rs886046010 0.00003
NM_012414.4(RAB3GAP2):c.*2901G>T rs533792649 0.00003
NM_012414.4(RAB3GAP2):c.-68C>T rs989511076 0.00003
NM_012414.4(RAB3GAP2):c.1131-4T>C rs752780415 0.00003
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys) rs770787571 0.00003
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=) rs756886302 0.00003
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) rs774771619 0.00003
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) rs189536938 0.00003
NM_012414.4(RAB3GAP2):c.*1791T>C rs556118037 0.00002
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) rs749859259 0.00002
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359 0.00002
NM_012414.4(RAB3GAP2):c.*2769G>T rs886046006 0.00001
NM_012414.4(RAB3GAP2):c.*436A>G rs1027206904 0.00001
NM_012414.4(RAB3GAP2):c.*537G>C rs886046015 0.00001
NM_012414.4(RAB3GAP2):c.-20T>C rs926169525 0.00001
NM_012414.4(RAB3GAP2):c.-48A>G rs767297724 0.00001
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) rs779972563 0.00001
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) rs763764406 0.00001
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) rs747104956 0.00001
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075 0.00001
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) rs746962559 0.00001
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) rs753147106 0.00001
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) rs368216093 0.00001
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254 0.00001
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) rs1378967581 0.00001
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) rs886046024 0.00001
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018 0.00001
NM_012414.4(RAB3GAP2):c.612+15T>C rs777576498 0.00001
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln) rs189134236 0.00001
NM_012414.4(RAB3GAP2):c.*1087A>C rs1558135886
NM_012414.4(RAB3GAP2):c.*108T>A rs886046016
NM_012414.4(RAB3GAP2):c.*1340T>C rs1657714085
NM_012414.4(RAB3GAP2):c.*1560A>G rs1422943080
NM_012414.4(RAB3GAP2):c.*2336T>G rs1049662170
NM_012414.4(RAB3GAP2):c.*2386A>C rs1657684140
NM_012414.4(RAB3GAP2):c.*417A>G rs576040740
NM_012414.4(RAB3GAP2):c.*509G>A rs1046907825
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) rs1658613102
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) rs886046022
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) rs1658595836
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) rs149563712
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys) rs1658438143
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala) rs1659134905
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) rs886046020
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) rs1437597491
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017

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