ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
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HGVS dbSNP
NC_000010.11:g.27504220G>A
NM_001256410.1(RAB18):c.-144T>A rs780539442
NM_001256410.1(RAB18):c.-182G>A rs770568854
NM_001256410.1(RAB18):c.-79T>A rs886046964
NM_012233.3(RAB3GAP1):c.*1056G>A
NM_012233.3(RAB3GAP1):c.*1107A>C
NM_012233.3(RAB3GAP1):c.*1208dup rs200869351
NM_012233.3(RAB3GAP1):c.*1209T>C
NM_012233.3(RAB3GAP1):c.*1212A>G
NM_012233.3(RAB3GAP1):c.*1247T>C
NM_012233.3(RAB3GAP1):c.*1272T>C
NM_012233.3(RAB3GAP1):c.*1397C>T rs147177352
NM_012233.3(RAB3GAP1):c.*1511G>A rs575731807
NM_012233.3(RAB3GAP1):c.*1534G>A
NM_012233.3(RAB3GAP1):c.*1543T>C
NM_012233.3(RAB3GAP1):c.*1611A>T rs188370805
NM_012233.3(RAB3GAP1):c.*1693G>C rs144378327
NM_012233.3(RAB3GAP1):c.*174T>C rs886054854
NM_012233.3(RAB3GAP1):c.*1764C>G
NM_012233.3(RAB3GAP1):c.*1898G>A
NM_012233.3(RAB3GAP1):c.*201T>G rs78044288
NM_012233.3(RAB3GAP1):c.*252T>G rs7564565
NM_012233.3(RAB3GAP1):c.*255T>G
NM_012233.3(RAB3GAP1):c.*283C>T rs765003230
NM_012233.3(RAB3GAP1):c.*324T>G rs886054855
NM_012233.3(RAB3GAP1):c.*346G>A rs534792972
NM_012233.3(RAB3GAP1):c.*507A>G
NM_012233.3(RAB3GAP1):c.*547A>G rs886054856
NM_012233.3(RAB3GAP1):c.*557T>C
NM_012233.3(RAB3GAP1):c.*647T>C
NM_012233.3(RAB3GAP1):c.*822T>G
NM_012233.3(RAB3GAP1):c.*985dup rs370069043
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.2800C>A (p.Pro934Thr)
NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn)
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) rs751620093
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429
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
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.*1143A>G rs865932881
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1145del rs886046014
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160
NM_012414.4(RAB3GAP2):c.*1340T>C
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194
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.*1791T>C
NM_012414.4(RAB3GAP2):c.*1821C>T
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.*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.*2450G>T rs568052992
NM_012414.4(RAB3GAP2):c.*2512del 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.*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.*374T>G rs765864531
NM_012414.4(RAB3GAP2):c.*391C>T
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.*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.-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.1244G>A (p.Arg415Lys)
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala)
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.1516G>A (p.Gly506Ser)
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg)
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.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.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.2168T>A (p.Val723Glu) rs150643803
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn)
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
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.2771G>A (p.Arg924Lys) rs758604254
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=)
NM_012414.4(RAB3GAP2):c.2981-7C>T
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=)
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile)
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.3867+13C>T rs200579008
NM_012414.4(RAB3GAP2):c.3868-8A>G rs886046018
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
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.520C>G (p.Leu174Val)
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.86T>G (p.Ile29Ser)
NM_012414.4(RAB3GAP2):c.960+13T>G
NM_021252.5(RAB18):c.*1041A>G
NM_021252.5(RAB18):c.*1047T>G
NM_021252.5(RAB18):c.*1089C>A rs189434439
NM_021252.5(RAB18):c.*1110A>G
NM_021252.5(RAB18):c.*1136G>A rs753649409
NM_021252.5(RAB18):c.*1141T>C rs751708158
NM_021252.5(RAB18):c.*1452G>A
NM_021252.5(RAB18):c.*1502G>C rs767488036
NM_021252.5(RAB18):c.*150C>A
NM_021252.5(RAB18):c.*150C>T rs768390542
NM_021252.5(RAB18):c.*1589T>C
NM_021252.5(RAB18):c.*1680A>T rs886046972
NM_021252.5(RAB18):c.*1696T>A rs886046973
NM_021252.5(RAB18):c.*16A>G rs886046968
NM_021252.5(RAB18):c.*1779A>T
NM_021252.5(RAB18):c.*1800A>G
NM_021252.5(RAB18):c.*1842A>G
NM_021252.5(RAB18):c.*1845G>T rs186064414
NM_021252.5(RAB18):c.*1895G>C rs746613469
NM_021252.5(RAB18):c.*1943G>A rs560571679
NM_021252.5(RAB18):c.*2030G>T rs750141100
NM_021252.5(RAB18):c.*2085A>C
NM_021252.5(RAB18):c.*2327T>C
NM_021252.5(RAB18):c.*2420C>A rs770379811
NM_021252.5(RAB18):c.*2788C>T rs886046974
NM_021252.5(RAB18):c.*2862T>C rs767741672
NM_021252.5(RAB18):c.*2943A>G rs886046975
NM_021252.5(RAB18):c.*2985T>G
NM_021252.5(RAB18):c.*3046_*3047dup rs886046976
NM_021252.5(RAB18):c.*3166C>T rs886046977
NM_021252.5(RAB18):c.*3167G>A rs546186493
NM_021252.5(RAB18):c.*3193C>T rs886046978
NM_021252.5(RAB18):c.*3222C>T
NM_021252.5(RAB18):c.*3227A>G
NM_021252.5(RAB18):c.*325C>G rs886046970
NM_021252.5(RAB18):c.*3293del rs573606717
NM_021252.5(RAB18):c.*3330G>C
NM_021252.5(RAB18):c.*3543G>A
NM_021252.5(RAB18):c.*3559C>T rs117041769
NM_021252.5(RAB18):c.*3599dup rs779470678
NM_021252.5(RAB18):c.*3701_*3704GACT[1] rs759695566
NM_021252.5(RAB18):c.*3729G>C rs530960985
NM_021252.5(RAB18):c.*3766C>A
NM_021252.5(RAB18):c.*382C>T rs886046971
NM_021252.5(RAB18):c.*3832C>A
NM_021252.5(RAB18):c.*3906G>A
NM_021252.5(RAB18):c.*3927A>G rs886046981
NM_021252.5(RAB18):c.*4008C>T
NM_021252.5(RAB18):c.*402T>C rs555933024
NM_021252.5(RAB18):c.*4038A>T
NM_021252.5(RAB18):c.*4039A>C rs886046982
NM_021252.5(RAB18):c.*407G>T
NM_021252.5(RAB18):c.*4185G>A
NM_021252.5(RAB18):c.*419G>A
NM_021252.5(RAB18):c.*557G>A rs77758705
NM_021252.5(RAB18):c.*560C>T
NM_021252.5(RAB18):c.*62C>T rs886046969
NM_021252.5(RAB18):c.*635G>A
NM_021252.5(RAB18):c.*741A>G rs114899806
NM_021252.5(RAB18):c.*764A>G rs749045175
NM_021252.5(RAB18):c.*822T>C
NM_021252.5(RAB18):c.*890G>A rs539207601
NM_021252.5(RAB18):c.*8G>A
NM_021252.5(RAB18):c.*906A>G
NM_021252.5(RAB18):c.*946G>T
NM_021252.5(RAB18):c.*956A>C rs770434733
NM_021252.5(RAB18):c.*992C>A rs763254596
NM_021252.5(RAB18):c.*99C>T rs767920219
NM_021252.5(RAB18):c.-41A>G rs770276006
NM_021252.5(RAB18):c.270C>A (p.Val90=) rs750139202
NM_021252.5(RAB18):c.298G>C (p.Asp100His) rs748274360
NM_021252.5(RAB18):c.36C>A (p.Leu12=) rs61757825
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) rs190213580
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln)
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) rs886046967
NM_021252.5(RAB18):c.68+10A>G rs886046965

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