ClinVar Miner

List of variants in gene RAB3GAP2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_012414.4(RAB3GAP2):c.3261+176G>A rs2789792 0.48385
NM_012414.4(RAB3GAP2):c.3226-113C>T rs2808026 0.48380
NM_012414.4(RAB3GAP2):c.116-86T>C rs10863538 0.46438
NM_012414.4(RAB3GAP2):c.613-155C>G rs4142940 0.46320
NM_012414.4(RAB3GAP2):c.612+281G>C rs4511114 0.46117
NM_012414.4(RAB3GAP2):c.3225+110T>C rs2164790 0.27982
NM_012414.4(RAB3GAP2):c.713-237T>A rs7541290 0.24664
NM_012414.4(RAB3GAP2):c.305-278G>A rs59681037 0.16160
NM_012414.4(RAB3GAP2):c.304+330A>G rs57557703 0.16149
NM_012414.4(RAB3GAP2):c.2417-181T>G rs73098558 0.12787
NM_012414.4(RAB3GAP2):c.181-284A>G rs112445597 0.12191
NM_012414.4(RAB3GAP2):c.115+247G>A rs73095636 0.08650
NM_012414.4(RAB3GAP2):c.811+199T>A rs112529023 0.08462
NM_012414.4(RAB3GAP2):c.613-208C>A rs56357312 0.08425
NM_012414.4(RAB3GAP2):c.1780-154C>A rs17622257 0.08106
NM_012414.4(RAB3GAP2):c.304+115C>T rs147804604 0.07969
NM_012414.4(RAB3GAP2):c.1271-224G>A rs79314046 0.07051
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_012414.4(RAB3GAP2):c.2416+101T>C rs41303055 0.06850
NM_012414.4(RAB3GAP2):c.3262-80G>C rs3767655 0.06848
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_012414.4(RAB3GAP2):c.1131-225G>A rs79287176 0.06779
NM_012414.4(RAB3GAP2):c.1270+85A>T rs78010602 0.06774
NM_012414.4(RAB3GAP2):c.115+77G>A rs2292418 0.06638
NM_012414.4(RAB3GAP2):c.1998+77A>G rs73098569 0.05603
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_012414.4(RAB3GAP2):c.3868-31C>G rs12032738 0.04866
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_012414.4(RAB3GAP2):c.1779+263G>A rs61830433 0.04739
NM_012414.4(RAB3GAP2):c.304+116C>T rs149818106 0.04682
NM_012414.4(RAB3GAP2):c.2416+119G>A rs7527410 0.04665
NM_012414.4(RAB3GAP2):c.4026+59G>C rs2789790 0.04605
NM_012414.4(RAB3GAP2):c.712+283G>C rs75708871 0.04338
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_012414.4(RAB3GAP2):c.2578-170C>T rs77315325 0.03331
NM_012414.4(RAB3GAP2):c.3155-115A>G rs74139288 0.02679
NM_012414.4(RAB3GAP2):c.3155-194C>G rs141613840 0.02558
NM_012414.4(RAB3GAP2):c.1488-222_1488-221del rs141349027 0.01723
NM_012414.4(RAB3GAP2):c.811+242C>T rs138654906 0.01676
NM_012414.4(RAB3GAP2):c.2416+285T>C rs114769082 0.01258
NM_012414.4(RAB3GAP2):c.812-153C>A rs116370890 0.01257
NM_012414.4(RAB3GAP2):c.812-261G>A rs138829349 0.01246
NM_012414.4(RAB3GAP2):c.2577+266G>A rs2577129 0.01115
NM_012414.4(RAB3GAP2):c.713-72G>A rs114038940 0.00760
NM_012414.4(RAB3GAP2):c.2577+176A>G rs142368719 0.00639
NM_012414.4(RAB3GAP2):c.3867+33C>G rs114940727 0.00612
NM_012414.4(RAB3GAP2):c.2806+181C>T rs185647458 0.00595
NM_012414.4(RAB3GAP2):c.613-207A>C rs137944267 0.00576
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455 0.00513
NM_012414.4(RAB3GAP2):c.1487+250G>T rs6701106 0.00512
NM_012414.4(RAB3GAP2):c.2578-313A>G rs140779183 0.00506
NM_012414.4(RAB3GAP2):c.1998+331T>C rs186373235 0.00505
NM_012414.4(RAB3GAP2):c.2213-72G>T rs189531804 0.00499
NM_012414.4(RAB3GAP2):c.3556-175T>C rs143324123 0.00484
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_012414.4(RAB3GAP2):c.3155-141A>G rs113804589 0.00422
NM_012414.4(RAB3GAP2):c.812-276A>G rs112968685 0.00421
NM_012414.4(RAB3GAP2):c.1270+241C>T rs12144630 0.00411
NM_012414.4(RAB3GAP2):c.612+29A>G rs77791948 0.00400
NM_012414.4(RAB3GAP2):c.3155-136A>G rs111713427 0.00394
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_012414.4(RAB3GAP2):c.2577+79G>A rs180790267 0.00298
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_012414.4(RAB3GAP2):c.938C>T (p.Thr313Ile) rs74139292 0.00104
NM_012414.4(RAB3GAP2):c.*2171A>G rs570021838 0.00103
NM_012414.4(RAB3GAP2):c.112C>T (p.Pro38Ser) rs138796052 0.00102
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00094
NM_012414.4(RAB3GAP2):c.1632-16A>G rs191799009 0.00058
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_012414.4(RAB3GAP2):c.173A>C (p.Gln58Pro) rs111859466 0.00047
NM_012414.4(RAB3GAP2):c.3390G>A (p.Ala1130=) rs140377995 0.00045
NM_012414.4(RAB3GAP2):c.304+25A>T rs190706082 0.00042
NM_012414.4(RAB3GAP2):c.3702C>T (p.Val1234=) rs137897304 0.00041
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
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.3112A>G (p.Ile1038Val) rs144779240 0.00029
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_012414.4(RAB3GAP2):c.3616G>T (p.Asp1206Tyr) rs139407102 0.00016
NM_012414.4(RAB3GAP2):c.2212+15A>T rs375627012 0.00013
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg) rs151244742 0.00013
NM_012414.4(RAB3GAP2):c.33C>G (p.Phe11Leu) rs1446997240 0.00013
NM_012414.4(RAB3GAP2):c.812-6T>A rs575925720 0.00013
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 0.00006
NM_012414.4(RAB3GAP2):c.1657G>A (p.Asp553Asn) rs199952665 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_012414.4(RAB3GAP2):c.2030A>G (p.Lys677Arg) rs200632298 0.00006
NM_012414.4(RAB3GAP2):c.2282C>T (p.Ser761Leu) rs562096116 0.00006
NM_012414.4(RAB3GAP2):c.2878A>G (p.Asn960Asp) rs376965360 0.00006
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.4027-5T>C rs779800010 0.00003
NM_012414.4(RAB3GAP2):c.467T>C (p.Ile156Thr) rs749444902 0.00003
NM_012414.4(RAB3GAP2):c.506C>T (p.Thr169Ile) rs140312751 0.00003
NM_012414.4(RAB3GAP2):c.1792A>C (p.Ile598Leu) rs587780427 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.3355G>A (p.Glu1119Lys) rs1029887970 0.00002
NM_012414.4(RAB3GAP2):c.3701T>C (p.Val1234Ala) rs1057524739 0.00002
NM_012414.4(RAB3GAP2):c.718G>C (p.Ala240Pro) rs146337693 0.00002
NM_012414.4(RAB3GAP2):c.950A>G (p.Tyr317Cys) rs371921545 0.00002
NM_012414.4(RAB3GAP2):c.1159G>A (p.Gly387Ser) rs886046023 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1613C>T (p.Pro538Leu) rs201995018 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.1715-8C>T rs1558149499 0.00001
NM_012414.4(RAB3GAP2):c.1715-8del rs1297620057 0.00001
NM_012414.4(RAB3GAP2):c.1984C>T (p.Pro662Ser) rs779101759 0.00001
NM_012414.4(RAB3GAP2):c.1994A>C (p.Asp665Ala) rs368311514 0.00001
NM_012414.4(RAB3GAP2):c.2137T>G (p.Phe713Val) rs1182001725 0.00001
NM_012414.4(RAB3GAP2):c.2367G>A (p.Gln789=) rs752461001 0.00001
NM_012414.4(RAB3GAP2):c.2461T>C (p.Trp821Arg) rs778885650 0.00001
NM_012414.4(RAB3GAP2):c.2527G>A (p.Val843Ile) rs753147106 0.00001
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) rs564016323 0.00001
NM_012414.4(RAB3GAP2):c.3797G>A (p.Ser1266Asn) rs373515509 0.00001
NM_012414.4(RAB3GAP2):c.379G>A (p.Glu127Lys) rs747224775 0.00001
NM_012414.4(RAB3GAP2):c.3805G>A (p.Val1269Ile) rs778851334 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 0.00001
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
GRCh37/hg19 1q41(chr1:220408340-220490046)x1
NM_012414.4(RAB3GAP2):c.*1144del rs11316594
NM_012414.4(RAB3GAP2):c.115+294dup rs150613135
NM_012414.4(RAB3GAP2):c.1154G>A (p.Arg385His)
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.130T>G (p.Trp44Gly) rs2102891734
NM_012414.4(RAB3GAP2):c.1325G>A (p.Arg442Lys) rs2102869763
NM_012414.4(RAB3GAP2):c.1482C>T (p.His494=)
NM_012414.4(RAB3GAP2):c.1523A>G (p.Asn508Ser)
NM_012414.4(RAB3GAP2):c.1631+8G>T rs1553276397
NM_012414.4(RAB3GAP2):c.165_168del (p.Glu56fs) rs767189501
NM_012414.4(RAB3GAP2):c.1743_1746del (p.Leu581fs) rs1658577400
NM_012414.4(RAB3GAP2):c.1762C>T (p.Pro588Ser) rs181502287
NM_012414.4(RAB3GAP2):c.1779+186_1779+187del rs35162828
NM_012414.4(RAB3GAP2):c.1779+187del rs35162828
NM_012414.4(RAB3GAP2):c.1780-264A>G rs17007152
NM_012414.4(RAB3GAP2):c.180+87A>G rs12086760
NM_012414.4(RAB3GAP2):c.1836C>A (p.Ile612=) rs794727209
NM_012414.4(RAB3GAP2):c.1949_1952del (p.Ser650fs) rs1558147821
NM_012414.4(RAB3GAP2):c.1966del (p.Asp656fs) rs2102866080
NM_012414.4(RAB3GAP2):c.2005G>T (p.Ala669Ser)
NM_012414.4(RAB3GAP2):c.2090A>G (p.Asn697Ser)
NM_012414.4(RAB3GAP2):c.2143G>A (p.Glu715Lys)
NM_012414.4(RAB3GAP2):c.214del (p.Thr72fs) rs1659134672
NM_012414.4(RAB3GAP2):c.218C>A (p.Ser73Tyr) rs764594200
NM_012414.4(RAB3GAP2):c.218_219delinsAT (p.Ser73Tyr)
NM_012414.4(RAB3GAP2):c.230A>T (p.Asp77Val)
NM_012414.4(RAB3GAP2):c.2310+165del rs11343960
NM_012414.4(RAB3GAP2):c.2310+198dup rs375756461
NM_012414.4(RAB3GAP2):c.2311-83T>G rs150060767
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.2786dup (p.Leu930fs) rs1157667071
NM_012414.4(RAB3GAP2):c.2807-8A>G
NM_012414.4(RAB3GAP2):c.2844dup (p.Gln949fs) rs1553274382
NM_012414.4(RAB3GAP2):c.2981-6T>C rs1571878836
NM_012414.4(RAB3GAP2):c.2998T>C (p.Tyr1000His)
NM_012414.4(RAB3GAP2):c.3031G>A (p.Val1011Ile) rs1658088143
NM_012414.4(RAB3GAP2):c.304+112_304+113insTCT rs550502152
NM_012414.4(RAB3GAP2):c.304+121C>T rs138212227
NM_012414.4(RAB3GAP2):c.304+1G>C rs769690915
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.3081T>C (p.Asp1027=)
NM_012414.4(RAB3GAP2):c.3154+241dup rs35024056
NM_012414.4(RAB3GAP2):c.3154+259del rs35024056
NM_012414.4(RAB3GAP2):c.3154+278dup rs71169436
NM_012414.4(RAB3GAP2):c.3154+287del rs71169436
NM_012414.4(RAB3GAP2):c.3180G>A (p.Thr1060=) rs765738431
NM_012414.4(RAB3GAP2):c.3205G>A (p.Ala1069Thr) rs1571876204
NM_012414.4(RAB3GAP2):c.3226-77dup rs11435010
NM_012414.4(RAB3GAP2):c.3246T>C (p.Asp1082=)
NM_012414.4(RAB3GAP2):c.3249del (p.Arg1083fs)
NM_012414.4(RAB3GAP2):c.3261+106G>A rs151021083
NM_012414.4(RAB3GAP2):c.3262-101A>C rs3767654
NM_012414.4(RAB3GAP2):c.3271A>G (p.Met1091Val)
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_012414.4(RAB3GAP2):c.3538dup (p.Ser1180fs) rs1553273525
NM_012414.4(RAB3GAP2):c.3555+10T>C rs1571873851
NM_012414.4(RAB3GAP2):c.3556-46del rs140309039
NM_012414.4(RAB3GAP2):c.3691G>A (p.Ala1231Thr) rs1402786317
NM_012414.4(RAB3GAP2):c.3862G>T (p.Glu1288Ter) rs1387931144
NM_012414.4(RAB3GAP2):c.3868-10C>G rs1310779201
NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)
NM_012414.4(RAB3GAP2):c.3961A>G (p.Thr1321Ala) rs1571871092
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.40C>G (p.Leu14Val) rs1231404992
NM_012414.4(RAB3GAP2):c.434+1G>A rs2102880445
NM_012414.4(RAB3GAP2):c.449G>A (p.Arg150His)
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
NM_012414.4(RAB3GAP2):c.5C>G (p.Ala2Gly) rs1558178728
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.713-2A>C
NM_012414.4(RAB3GAP2):c.811+158A>G rs149591659
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012414.4(RAB3GAP2):c.84G>A (p.Glu28=)
NM_012414.4(RAB3GAP2):c.873T>C (p.Asn291=) rs1463280020
NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)
NM_012414.4(RAB3GAP2):c.944TCT[1] (p.Phe316del) rs1558151600

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