ClinVar Miner

List of variants in gene RAB3GAP2 studied for Warburg micro syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP
NM_012414.3(RAB3GAP2):c.*2971_*2974dupAACA rs529035209
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875
NM_012414.4(RAB3GAP2):c.*104T>C
NM_012414.4(RAB3GAP2):c.*1087A>C
NM_012414.4(RAB3GAP2):c.*108T>A rs886046016
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189
NM_012414.4(RAB3GAP2):c.*1143A>G rs865932881
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1145del rs886046014
NM_012414.4(RAB3GAP2):c.*1271C>T rs193019999
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160
NM_012414.4(RAB3GAP2):c.*1340T>C
NM_012414.4(RAB3GAP2):c.*1404T>C
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053
NM_012414.4(RAB3GAP2):c.*1527G>C
NM_012414.4(RAB3GAP2):c.*1538T>C
NM_012414.4(RAB3GAP2):c.*1559C>T
NM_012414.4(RAB3GAP2):c.*1560A>G
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA rs143194915
NM_012414.4(RAB3GAP2):c.*1791T>C
NM_012414.4(RAB3GAP2):c.*1821C>T
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640
NM_012414.4(RAB3GAP2):c.*2090_*2093AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2102C>A rs149913096
NM_012414.4(RAB3GAP2):c.*2171A>G
NM_012414.4(RAB3GAP2):c.*2176G>C
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455
NM_012414.4(RAB3GAP2):c.*2336T>G
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2347T>C rs886046010
NM_012414.4(RAB3GAP2):c.*2386A>C
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2399A>G
NM_012414.4(RAB3GAP2):c.*2450G>T rs568052992
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2518A>G rs528100310
NM_012414.4(RAB3GAP2):c.*2550G>C rs886046009
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008
NM_012414.4(RAB3GAP2):c.*2638C>T
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007
NM_012414.4(RAB3GAP2):c.*2695T>C
NM_012414.4(RAB3GAP2):c.*2769G>T rs886046006
NM_012414.4(RAB3GAP2):c.*2901G>T
NM_012414.4(RAB3GAP2):c.*2920_*2922CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531
NM_012414.4(RAB3GAP2):c.*391C>T
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140
NM_012414.4(RAB3GAP2):c.*417A>G
NM_012414.4(RAB3GAP2):c.*436A>G
NM_012414.4(RAB3GAP2):c.*509G>A
NM_012414.4(RAB3GAP2):c.*537G>C rs886046015
NM_012414.4(RAB3GAP2):c.*572G>T
NM_012414.4(RAB3GAP2):c.*645C>T rs188031183
NM_012414.4(RAB3GAP2):c.*777T>C
NM_012414.4(RAB3GAP2):c.*78G>A
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953
NM_012414.4(RAB3GAP2):c.-20T>C
NM_012414.4(RAB3GAP2):c.-48A>G rs767297724
NM_012414.4(RAB3GAP2):c.-68C>T
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116
NM_012414.4(RAB3GAP2):c.-86T>C rs535968000
NM_012414.4(RAB3GAP2):c.-87A>G rs576041163
NM_012414.4(RAB3GAP2):c.1069G>A (p.Glu357Lys) rs779972563
NM_012414.4(RAB3GAP2):c.1131-4T>C rs752780415
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023
NM_012414.4(RAB3GAP2):c.1205C>G (p.Thr402Arg) rs763764406
NM_012414.4(RAB3GAP2):c.1215C>T (p.Phe405=) rs762485949
NM_012414.4(RAB3GAP2):c.1244G>A (p.Arg415Lys)
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala)
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln)
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) rs886046022
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser)
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg)
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu)
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg)
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1608C>T (p.Asn536=)
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075
NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) rs147587414
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456
NM_012414.4(RAB3GAP2):c.2027A>G (p.Glu676Gly) rs774771619
NM_012414.4(RAB3GAP2):c.2059G>A (p.Glu687Lys)
NM_012414.4(RAB3GAP2):c.205A>G (p.Thr69Ala)
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn)
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) rs1571881674
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) rs886046020
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) rs753147106
NM_012414.4(RAB3GAP2):c.2538T>G (p.Ser846=) rs368216093
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys)
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=)
NM_012414.4(RAB3GAP2):c.2981-7C>T
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) rs138489010
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile)
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.383A>C (p.Glu128Ala) rs886046024
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920
NM_012414.4(RAB3GAP2):c.4026+10A>G rs746827542
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys)
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val)
NM_012414.4(RAB3GAP2):c.597C>T (p.Pro199=) rs371029254
NM_012414.4(RAB3GAP2):c.612+15T>C rs777576498
NM_012414.4(RAB3GAP2):c.613-14T>A
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.695G>A (p.Arg232Gln)
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser)
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292
NM_012414.4(RAB3GAP2):c.960+13T>G
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986

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