ClinVar Miner

List of variants studied for Warburg micro syndrome 1

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys) rs114901298 0.01077
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_012233.3(RAB3GAP1):c.*303G>A rs72980321 0.00455
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu) rs75269203 0.00146
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_012233.3(RAB3GAP1):c.2946A>G (p.Ter982Trp) rs141436429 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.*170C>T rs180839370 0.00010
NM_012233.3(RAB3GAP1):c.*1534G>A rs994607354 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_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.267G>A (p.Lys89=) rs757292994 0.00002
NM_012233.3(RAB3GAP1):c.899+1G>A rs587777152 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.1009C>T (p.Arg337Ter) rs766629205 0.00001
NM_012233.3(RAB3GAP1):c.1039C>T (p.Arg347Ter) rs532964185 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_012233.3(RAB3GAP1):c.559C>T (p.Arg187Ter) rs764260054 0.00001
GRCh38/hg38 2q21.3(chr2:135162318-135164794)x1
NC_000002.12:g.(?_135052292)_(135176396_?)del
NM_012233.3(RAB3GAP1):c.*1107A>C rs568271625
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.1048T>C (p.Phe350Leu) rs886054851
NM_012233.3(RAB3GAP1):c.1113A>G (p.Ala371=) rs780827916
NM_012233.3(RAB3GAP1):c.1174C>T (p.Arg392Ter)
NM_012233.3(RAB3GAP1):c.1199C>G (p.Ser400Ter) rs2104943498
NM_012233.3(RAB3GAP1):c.1233C>T (p.Leu411=) rs755867265
NM_012233.3(RAB3GAP1):c.1237-2A>G rs1558792168
NM_012233.3(RAB3GAP1):c.1247del (p.Pro416fs)
NM_012233.3(RAB3GAP1):c.1310C>G (p.Ser437Ter) rs1558792256
NM_012233.3(RAB3GAP1):c.1410C>A (p.Tyr470Ter) rs267606996
NM_012233.3(RAB3GAP1):c.1440_1441del (p.Trp481fs)
NM_012233.3(RAB3GAP1):c.1552C>T (p.Gln518Ter) rs1691647986
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.1734G>A (p.Trp578Ter) rs137853053
NM_012233.3(RAB3GAP1):c.1908C>G (p.Tyr636Ter) rs1573585099
NM_012233.3(RAB3GAP1):c.1924-3C>T rs984857143
NM_012233.3(RAB3GAP1):c.2011C>T (p.Arg671Ter) rs137853052
NM_012233.3(RAB3GAP1):c.2037_2055dup (p.Phe686fs) rs587777153
NM_012233.3(RAB3GAP1):c.2098A>C (p.Arg700=) rs886054853
NM_012233.3(RAB3GAP1):c.2187_2188delinsCT (p.Met729_Lys730delinsIleTer) rs2104983369
NM_012233.3(RAB3GAP1):c.2275C>T (p.Arg759Trp) rs748968368
NM_012233.3(RAB3GAP1):c.2290-17_2290del
NM_012233.3(RAB3GAP1):c.2393_2394del (p.Leu798fs)
NM_012233.3(RAB3GAP1):c.2486T>A (p.Leu829Ter) rs1558805781
NM_012233.3(RAB3GAP1):c.2491G>T (p.Glu831Ter) rs1558805900
NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs)
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter) rs797045905
NM_012233.3(RAB3GAP1):c.264_270delinsTTATTA (p.Lys89fs) rs730882184
NM_012233.3(RAB3GAP1):c.2710-1G>A
NM_012233.3(RAB3GAP1):c.2800C>A (p.Pro934Thr) rs77535003
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003
NM_012233.3(RAB3GAP1):c.2801del (p.Pro934fs) rs730882182
NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
NM_012233.3(RAB3GAP1):c.2865_2866insTTCT (p.Pro956fs) rs1553450718
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.429dup (p.Lys144Ter) rs1553444644
NM_012233.3(RAB3GAP1):c.469G>T (p.Gly157Ter) rs1558782178
NM_012233.3(RAB3GAP1):c.52A>C (p.Thr18Pro) rs587777154
NM_012233.3(RAB3GAP1):c.540dup (p.Cys181fs)
NM_012233.3(RAB3GAP1):c.560G>C (p.Arg187Pro) rs1553444935
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs) rs1064794536
NM_012233.3(RAB3GAP1):c.649-2A>G rs730882183
NM_012233.3(RAB3GAP1):c.659del (p.Pro219_Leu220insTer)
NM_012233.3(RAB3GAP1):c.71A>T (p.Glu24Val) rs587777155
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012233.3(RAB3GAP1):c.94G>A (p.Glu32Lys) rs143078664
NM_012233.3(RAB3GAP1):c.991T>C (p.Phe331Leu)

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