ClinVar Miner

List of variants reported as uncertain significance for Warburg micro syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.*1397C>T rs147177352 0.00098
NM_012233.3(RAB3GAP1):c.1268C>G (p.Pro423Arg) rs143010678 0.00055
NM_012233.3(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274 0.00045
NM_012233.3(RAB3GAP1):c.*1611A>T rs188370805 0.00035
NM_012233.3(RAB3GAP1):c.1226C>T (p.Thr409Ile) rs149010855 0.00034
NM_012233.3(RAB3GAP1):c.*647T>C rs553227077 0.00033
NM_012414.3(RAB3GAP2):c.-132G>A rs572492875 0.00031
NM_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 0.00021
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012233.3(RAB3GAP1):c.-4C>T rs202050016 0.00012
NM_012233.3(RAB3GAP1):c.*346G>A rs534792972 0.00011
NM_012233.3(RAB3GAP1):c.*1534G>A rs994607354 0.00009
NM_012414.4(RAB3GAP2):c.*2551_*2552del rs886046008 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_012233.3(RAB3GAP1):c.*201T>G rs78044288 0.00007
NM_012233.3(RAB3GAP1):c.2333G>A (p.Arg778Gln) rs146072589 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_012233.3(RAB3GAP1):c.*1209T>C rs962177642 0.00005
NM_012233.3(RAB3GAP1):c.*507A>G rs186189305 0.00005
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 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_012233.3(RAB3GAP1):c.*1247T>C rs1027342528 0.00003
NM_012233.3(RAB3GAP1):c.*324T>G rs886054855 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_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.1376A>G (p.Lys459Arg) rs772002275 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
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
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.258_261del (p.Gly88fs)
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_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)
NM_012414.3(RAB3GAP2):c.*2970_*2973dup rs529035209
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.*2090AAAT[2] rs886046013
NM_012414.4(RAB3GAP2):c.*2210G>C rs886046012
NM_012414.4(RAB3GAP2):c.*2338_*2339del rs886046011
NM_012414.4(RAB3GAP2):c.*2392_*2395dup rs552063647
NM_012414.4(RAB3GAP2):c.*2512del rs143756119
NM_012414.4(RAB3GAP2):c.*798_*799dup rs35147354
NM_012414.4(RAB3GAP2):c.*799dup rs35147354
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_021252.5(RAB18):c.*150C>T rs768390542
NM_021252.5(RAB18):c.*16A>G rs886046968
NM_021252.5(RAB18):c.*2030G>T rs750141100
NM_021252.5(RAB18):c.*3046_*3047dup rs886046976
NM_021252.5(RAB18):c.*3293del rs573606717
NM_021252.5(RAB18):c.*3599dup rs779470678
NM_021252.5(RAB18):c.*3701GACT[1] rs759695566

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