ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.*1143A>G rs865932881 0.01091
NM_021252.5(RAB18):c.*2327T>C rs183252579 0.00679
NM_021252.5(RAB18):c.*557G>A rs77758705 0.00432
NM_012414.4(RAB3GAP2):c.*1821C>T rs144988111 0.00382
NM_021252.5(RAB18):c.*741A>G rs114899806 0.00382
NM_021252.5(RAB18):c.*419G>A rs569311945 0.00253
NM_021252.5(RAB18):c.*635G>A rs558244526 0.00193
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_021252.5(RAB18):c.*3559C>T rs117041769 0.00129
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_012233.3(RAB3GAP1):c.*1397C>T rs147177352 0.00098
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_021252.5(RAB18):c.*402T>C rs555933024 0.00096
NM_012414.4(RAB3GAP2):c.*1453T>G rs146743192 0.00088
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_021252.5(RAB18):c.*956A>C rs770434733 0.00082
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160 0.00065
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) rs143010678 0.00055
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_021252.5(RAB18):c.*3167G>A rs546186493 0.00052
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_021252.5(RAB18):c.*1895G>C rs746613469 0.00045
NM_012414.4(RAB3GAP2):c.2168T>A (p.Val723Glu) rs150643803 0.00044
NM_021252.5(RAB18):c.*1779A>T rs544225499 0.00043
NM_021252.5(RAB18):c.*946G>T rs561667494 0.00043
NM_012233.3(RAB3GAP1):c.*1611A>T rs188370805 0.00035
NM_021252.5(RAB18):c.*1136G>A rs753649409 0.00034
NM_012233.3(RAB3GAP1):c.*647T>C rs553227077 0.00033
NM_012414.4(RAB3GAP2):c.1258C>T (p.Arg420Cys) rs188522997 0.00033
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012414.4(RAB3GAP2):c.*2450G>T rs568052992 0.00031
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_021252.5(RAB18):c.*1047T>G rs983211187 0.00028
NM_021252.5(RAB18):c.*3543G>A rs747609242 0.00027
NM_021252.5(RAB18):c.*1110A>G rs79403948 0.00026
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_021252.5(RAB18):c.*1141T>C rs751708158 0.00020
NM_021252.5(RAB18):c.*3729G>C rs530960985 0.00020
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194 0.00019
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00019
NM_021252.5(RAB18):c.*1842A>G rs758153438 0.00019
NM_021252.5(RAB18):c.*1845G>T rs186064414 0.00016
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00013
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_021252.5(RAB18):c.*1502G>C rs767488036 0.00013
NM_021252.5(RAB18):c.*2862T>C rs767741672 0.00013
NM_021252.5(RAB18):c.*992C>A rs763254596 0.00013
NM_012233.3(RAB3GAP1):c.-4C>T rs202050016 0.00012
NM_012233.3(RAB3GAP1):c.*346G>A rs534792972 0.00011
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007 0.00011
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_021252.4(RAB18):c.-144T>A rs780539442 0.00011
NM_012414.4(RAB3GAP2):c.*1559C>T rs962614083 0.00010
NM_021252.5(RAB18):c.*2943A>G rs886046975 0.00010
NM_021252.5(RAB18):c.*3193C>T rs886046978 0.00010
NM_021252.5(RAB18):c.*4185G>A rs772242395 0.00010
NM_012233.3(RAB3GAP1):c.*1534G>A rs994607354 0.00009
NM_012414.4(RAB3GAP2):c.*2550G>C rs886046009 0.00009
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 0.00009
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) rs143415462 0.00009
NM_021252.5(RAB18):c.*3222C>T rs751337334 0.00009
NM_012233.3(RAB3GAP1):c.1588C>T (p.Arg530Cys) rs541272906 0.00008
NM_012233.3(RAB3GAP1):c.239T>C (p.Val80Ala) rs767842373 0.00008
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012233.3(RAB3GAP1):c.*201T>G rs78044288 0.00007
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) rs146072589 0.00007
NM_012414.4(RAB3GAP2):c.*2695T>C rs1004870855 0.00007
NM_021252.5(RAB18):c.*3927A>G rs886046981 0.00007
NM_012233.3(RAB3GAP1):c.*1693G>C rs144378327 0.00006
NM_012233.3(RAB3GAP1):c.*1764C>G rs917952866 0.00006
NM_012233.3(RAB3GAP1):c.1681C>G (p.Leu561Val) rs200175711 0.00006
NM_012233.3(RAB3GAP1):c.2007C>A (p.His669Gln) rs587780426 0.00006
NM_012233.3(RAB3GAP1):c.2839C>T (p.Arg947Cys) rs751620093 0.00006
NM_012414.4(RAB3GAP2):c.*777T>C rs1377423461 0.00006
NM_021252.5(RAB18):c.*1696T>A rs886046973 0.00006
NM_021252.5(RAB18):c.36C>A (p.Leu12=) rs61757825 0.00006
NM_021252.5(RAB18):c.394G>T (p.Asp132Tyr) rs190213580 0.00006
NM_012233.3(RAB3GAP1):c.*1209T>C rs962177642 0.00005
NM_012233.3(RAB3GAP1):c.*507A>G rs186189305 0.00005
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409 0.00005
NM_021252.5(RAB18):c.*2420C>A rs770379811 0.00005
NM_021252.5(RAB18):c.*764A>G rs749045175 0.00005
NM_021252.5(RAB18):c.*906A>G rs377745201 0.00005
NM_012233.3(RAB3GAP1):c.*1898G>A rs1008193661 0.00004
NM_012233.3(RAB3GAP1):c.*557T>C rs576779170 0.00004
NM_012233.3(RAB3GAP1):c.850A>G (p.Thr284Ala) rs148190655 0.00004
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_021252.5(RAB18):c.*3166C>T rs886046977 0.00004
NM_021252.5(RAB18):c.-41A>G rs770276006 0.00004
NM_012233.3(RAB3GAP1):c.*1247T>C rs1027342528 0.00003
NM_012233.3(RAB3GAP1):c.*324T>G rs886054855 0.00003
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_021252.5(RAB18):c.*1452G>A rs1045270686 0.00003
NM_021252.5(RAB18):c.*3330G>C rs537665208 0.00003
NM_021252.5(RAB18):c.*382C>T rs886046971 0.00003
NM_021252.5(RAB18):c.*4008C>T rs538921321 0.00003
NM_012233.3(RAB3GAP1):c.1175G>A (p.Arg392Gln) rs201430480 0.00002
NM_012233.3(RAB3GAP1):c.944G>A (p.Arg315Gln) rs776999297 0.00002
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_021252.5(RAB18):c.*1943G>A rs560571679 0.00002
NM_021252.5(RAB18):c.*325C>G rs886046970 0.00002
NM_021252.5(RAB18):c.*3766C>A rs1414340838 0.00002
NM_021252.5(RAB18):c.*4038A>T rs746250477 0.00002
NM_021252.5(RAB18):c.*8G>A rs371434806 0.00002
NM_012233.3(RAB3GAP1):c.*1056G>A rs946863592 0.00001
NM_012233.3(RAB3GAP1):c.*1272T>C rs1452526339 0.00001
NM_012233.3(RAB3GAP1):c.*1511G>A rs575731807 0.00001
NM_012233.3(RAB3GAP1):c.*1543T>C rs1221954343 0.00001
NM_012233.3(RAB3GAP1):c.*283C>T rs765003230 0.00001
NM_012233.3(RAB3GAP1):c.1079T>C (p.Ile360Thr) rs886054852 0.00001
NM_012233.3(RAB3GAP1):c.1153C>G (p.His385Asp) rs771433559 0.00001
NM_012233.3(RAB3GAP1):c.2540G>A (p.Arg847Gln) rs752599043 0.00001
NM_012233.3(RAB3GAP1):c.2831C>A (p.Thr944Asn) rs1287391427 0.00001
NM_012414.4(RAB3GAP2):c.*1145del rs886046014 0.00001
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_021252.5(RAB18):c.*1041A>G rs767104854 0.00001
NM_021252.5(RAB18):c.*1089C>A rs189434439 0.00001
NM_021252.5(RAB18):c.*1800A>G rs923872579 0.00001
NM_021252.5(RAB18):c.*2788C>T rs886046974 0.00001
NM_021252.5(RAB18):c.*3906G>A rs1473295756 0.00001
NM_021252.5(RAB18):c.*407G>T rs575299893 0.00001
NM_021252.5(RAB18):c.*560C>T rs1414516239 0.00001
NM_021252.5(RAB18):c.*62C>T rs886046969 0.00001
NM_021252.5(RAB18):c.*890G>A rs539207601 0.00001
NM_021252.5(RAB18):c.422G>A (p.Arg141Gln) rs1203985321 0.00001
NM_021252.5(RAB18):c.454G>A (p.Ala152Thr) rs886046967 0.00001
NM_021252.5(RAB18):c.68+10A>G rs886046965 0.00001
NM_012233.3(RAB3GAP1):c.*1107A>C rs568271625
NM_012233.3(RAB3GAP1):c.*1208dup rs200869351
NM_012233.3(RAB3GAP1):c.*1212A>G rs1427874543
NM_012233.3(RAB3GAP1):c.*174T>C rs886054854
NM_012233.3(RAB3GAP1):c.*252T>G rs7564565
NM_012233.3(RAB3GAP1):c.*255T>G rs7564566
NM_012233.3(RAB3GAP1):c.*547A>G rs886054856
NM_012233.3(RAB3GAP1):c.*822T>G rs1175250342
NM_012233.3(RAB3GAP1):c.*985dup rs370069043
NM_012233.3(RAB3GAP1):c.1048T>C (p.Phe350Leu) rs886054851
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) rs780827916
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=) rs755867265
NM_012233.3(RAB3GAP1):c.1924-3C>T rs984857143
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.2800C>A (p.Pro934Thr) rs77535003
NM_012233.3(RAB3GAP1):c.35T>C (p.Phe12Ser) rs1688906713
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.94G>A (p.Glu32Lys) rs143078664
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1087A>C rs1558135886
NM_012414.4(RAB3GAP2):c.*108T>A rs886046016
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*1340T>C rs1657714085
NM_012414.4(RAB3GAP2):c.*1560A>G rs1422943080
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2336T>G rs1049662170
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2386A>C rs1657684140
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*417A>G rs576040740
NM_012414.4(RAB3GAP2):c.*509G>A rs1046907825
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
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.1999-26GTTTT[2] rs764326258
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.2416+8_2416+9del rs769425345
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.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_021252.4(RAB18):c.-150G>A rs527459548
NM_021252.4(RAB18):c.-182G>A rs770568854
NM_021252.4(RAB18):c.-79T>A rs886046964
NM_021252.5(RAB18):c.*150C>A rs768390542
NM_021252.5(RAB18):c.*150C>T rs768390542
NM_021252.5(RAB18):c.*1589T>C rs1017507424
NM_021252.5(RAB18):c.*1680A>T rs886046972
NM_021252.5(RAB18):c.*16A>G rs886046968
NM_021252.5(RAB18):c.*2030G>T rs750141100
NM_021252.5(RAB18):c.*2085A>C rs1834992154
NM_021252.5(RAB18):c.*2985T>G rs1835014857
NM_021252.5(RAB18):c.*3046_*3047dup rs886046976
NM_021252.5(RAB18):c.*3227A>G rs1835021406
NM_021252.5(RAB18):c.*3293del rs573606717
NM_021252.5(RAB18):c.*3599dup rs779470678
NM_021252.5(RAB18):c.*3701GACT[1] rs759695566
NM_021252.5(RAB18):c.*3832C>A rs373663292
NM_021252.5(RAB18):c.*4039A>C rs886046982
NM_021252.5(RAB18):c.*822T>C rs1834959018
NM_021252.5(RAB18):c.*99C>T rs767920219
NM_021252.5(RAB18):c.270C>A (p.Val90=) rs750139202
NM_021252.5(RAB18):c.298G>C (p.Asp100His) rs748274360

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