ClinVar Miner

List of variants in gene RAB3GAP2 studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 524
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HGVS dbSNP gnomAD frequency
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.3275G>C (p.Ser1092Thr) rs2289189 0.06844
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.*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.*1143A>G rs865932881 0.01091
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_012414.4(RAB3GAP2):c.*2327A>G rs139079455 0.00513
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_012414.4(RAB3GAP2):c.*2638C>T rs74139286 0.00455
NM_012414.4(RAB3GAP2):c.*2464T>C rs111341601 0.00444
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_012414.4(RAB3GAP2):c.*1821C>T rs144988111 0.00382
NM_012414.4(RAB3GAP2):c.*2399A>G rs115637988 0.00369
NM_012414.4(RAB3GAP2):c.*1404T>C rs188666578 0.00355
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_012414.4(RAB3GAP2):c.*1271C>T rs193019999 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_012414.4(RAB3GAP2):c.*1527G>C rs185153185 0.00255
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_012414.4(RAB3GAP2):c.*1538T>C rs143472001 0.00175
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_012414.4(RAB3GAP2):c.*2102C>A rs149913096 0.00164
NM_012414.4(RAB3GAP2):c.-86T>C rs535968000 0.00161
NM_012414.4(RAB3GAP2):c.*645C>T rs188031183 0.00158
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
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.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.*1453T>G rs146743192 0.00088
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_012414.4(RAB3GAP2):c.*1335C>T rs747221160 0.00065
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_012414.4(RAB3GAP2):c.1632-16A>G rs191799009 0.00058
NM_012414.4(RAB3GAP2):c.3525C>T (p.Thr1175=) rs145701892 0.00056
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_012414.4(RAB3GAP2):c.2295C>T (p.Ser765=) rs143994202 0.00049
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.2168T>A (p.Val723Glu) rs150643803 0.00044
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.*2450G>T rs568052992 0.00031
NM_012414.4(RAB3GAP2):c.3112A>G (p.Ile1038Val) rs144779240 0.00029
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_012414.4(RAB3GAP2):c.2667T>G (p.Leu889=) rs145550355 0.00021
NM_012414.4(RAB3GAP2):c.2176A>G (p.Ile726Val) rs148513462 0.00020
NM_012414.4(RAB3GAP2):c.3337-6C>T rs137894782 0.00020
NM_012414.4(RAB3GAP2):c.3340G>A (p.Asp1114Asn) rs150704362 0.00020
NM_012414.4(RAB3GAP2):c.*1470G>A rs555263194 0.00019
NM_012414.4(RAB3GAP2):c.*374T>G rs765864531 0.00019
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.2304G>A (p.Leu768=) rs140146408 0.00014
NM_012414.4(RAB3GAP2):c.-78C>T rs557235116 0.00013
NM_012414.4(RAB3GAP2):c.1856C>T (p.Thr619Ile) rs146728785 0.00013
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.465C>T (p.Cys155=) rs144263040 0.00012
NM_012414.4(RAB3GAP2):c.*2643T>C rs886046007 0.00011
NM_012414.4(RAB3GAP2):c.960+13T>G rs202020014 0.00011
NM_012414.4(RAB3GAP2):c.*1559C>T rs962614083 0.00010
NM_012414.4(RAB3GAP2):c.3171G>A (p.Met1057Ile) rs368434757 0.00010
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.1215C>T (p.Phe405=) rs762485949 0.00009
NM_012414.4(RAB3GAP2):c.520C>G (p.Leu174Val) rs143415462 0.00009
NM_012414.4(RAB3GAP2):c.1406C>T (p.Ala469Val) rs151225064 0.00008
NM_012414.4(RAB3GAP2):c.2940T>A (p.Leu980=) rs373793377 0.00008
NM_012414.4(RAB3GAP2):c.*2695T>C rs1004870855 0.00007
NM_012414.4(RAB3GAP2):c.713-2A>G rs797045103 0.00007
NM_012414.4(RAB3GAP2):c.*777T>C rs1377423461 0.00006
NM_012414.4(RAB3GAP2):c.1481A>G (p.His494Arg) rs369595057 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.597C>T (p.Pro199=) rs371029254 0.00006
NM_012414.4(RAB3GAP2):c.1277G>A (p.Arg426His) rs769450409 0.00005
NM_012414.4(RAB3GAP2):c.1281C>T (p.Asp427=) rs372594666 0.00005
NM_012414.4(RAB3GAP2):c.*104T>C rs1041418234 0.00004
NM_012414.4(RAB3GAP2):c.119A>G (p.Lys40Arg) rs768067709 0.00004
NM_012414.4(RAB3GAP2):c.1407G>A (p.Ala469=) rs375443204 0.00004
NM_012414.4(RAB3GAP2):c.2955G>A (p.Met985Ile) rs754509783 0.00004
NM_012414.4(RAB3GAP2):c.2962G>A (p.Asp988Asn) rs369645487 0.00004
NM_012414.4(RAB3GAP2):c.2981-7C>T rs750436297 0.00004
NM_012414.4(RAB3GAP2):c.3336+10G>T rs771074307 0.00004
NM_012414.4(RAB3GAP2):c.4161C>T (p.Ala1387=) rs772430156 0.00004
NM_012414.4(RAB3GAP2):c.46G>A (p.Ala16Thr) rs201514595 0.00004
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 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.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012414.4(RAB3GAP2):c.2534A>G (p.His845Arg) rs183772495 0.00003
NM_012414.4(RAB3GAP2):c.3648C>T (p.Phe1216=) rs745868602 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.614A>G (p.Asn205Ser) rs148476958 0.00003
NM_012414.4(RAB3GAP2):c.86T>G (p.Ile29Ser) rs189536938 0.00003
NM_012414.4(RAB3GAP2):c.960+14C>T rs752258077 0.00003
NM_012414.4(RAB3GAP2):c.*1791T>C rs556118037 0.00002
NM_012414.4(RAB3GAP2):c.1041-19_1041-18del rs746233410 0.00002
NM_012414.4(RAB3GAP2):c.115+11C>G rs375507434 0.00002
NM_012414.4(RAB3GAP2):c.1589G>A (p.Gly530Glu) rs749859259 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2215A>G (p.Ser739Gly) rs572722938 0.00002
NM_012414.4(RAB3GAP2):c.2401C>T (p.Leu801=) rs773701395 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_012414.4(RAB3GAP2):c.3094C>T (p.Arg1032Cys) rs777414532 0.00002
NM_012414.4(RAB3GAP2):c.3294T>C (p.Ser1098=) rs368788359 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.3996A>G (p.Pro1332=) rs768393894 0.00002
NM_012414.4(RAB3GAP2):c.448C>T (p.Arg150Cys) rs767664284 0.00002
NM_012414.4(RAB3GAP2):c.540G>A (p.Leu180=) rs751363013 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.*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.*572G>T rs540128548 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.108G>A (p.Arg36=) rs765320215 0.00001
NM_012414.4(RAB3GAP2):c.1097C>T (p.Pro366Leu) rs988513386 0.00001
NM_012414.4(RAB3GAP2):c.1153C>T (p.Arg385Cys) rs755157552 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.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012414.4(RAB3GAP2):c.1393C>T (p.Leu465Phe) rs1444884870 0.00001
NM_012414.4(RAB3GAP2):c.1593T>A (p.Ser531Arg) rs747104956 0.00001
NM_012414.4(RAB3GAP2):c.1660A>G (p.Met554Val) rs367548608 0.00001
NM_012414.4(RAB3GAP2):c.180T>A (p.Pro60=) rs138809681 0.00001
NM_012414.4(RAB3GAP2):c.1891G>A (p.Gly631Arg) rs761157075 0.00001
NM_012414.4(RAB3GAP2):c.2051C>A (p.Ala684Glu) rs746414664 0.00001
NM_012414.4(RAB3GAP2):c.2117G>A (p.Gly706Asp) rs775609069 0.00001
NM_012414.4(RAB3GAP2):c.2264T>G (p.Met755Arg) rs1232753900 0.00001
NM_012414.4(RAB3GAP2):c.2340G>C (p.Lys780Asn) rs746962559 0.00001
NM_012414.4(RAB3GAP2):c.2367G>A (p.Gln789=) rs752461001 0.00001
NM_012414.4(RAB3GAP2):c.2417-7C>T rs973067244 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.267G>A (p.Met89Ile) rs376681173 0.00001
NM_012414.4(RAB3GAP2):c.2771G>A (p.Arg924Lys) rs758604254 0.00001
NM_012414.4(RAB3GAP2):c.3028G>A (p.Asp1010Asn) rs763047721 0.00001
NM_012414.4(RAB3GAP2):c.309A>C (p.Lys103Asn) rs1425618506 0.00001
NM_012414.4(RAB3GAP2):c.3183C>G (p.Phe1061Leu) rs760241426 0.00001
NM_012414.4(RAB3GAP2):c.3336+15T>C rs373879791 0.00001
NM_012414.4(RAB3GAP2):c.3453C>T (p.His1151=) rs1300023412 0.00001
NM_012414.4(RAB3GAP2):c.3526G>A (p.Val1176Met) rs754940777 0.00001
NM_012414.4(RAB3GAP2):c.3673G>A (p.Val1225Ile) rs148340670 0.00001
NM_012414.4(RAB3GAP2):c.3757C>T (p.Pro1253Ser) rs564016323 0.00001
NM_012414.4(RAB3GAP2):c.376G>A (p.Val126Ile) rs1378967581 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.3818A>G (p.His1273Arg) rs370057302 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.4026+10A>G rs746827542 0.00001
NM_012414.4(RAB3GAP2):c.504C>T (p.Tyr168=) rs778754576 0.00001
NM_012414.4(RAB3GAP2):c.511-7C>T rs748684063 0.00001
NM_012414.4(RAB3GAP2):c.516T>C (p.Gly172=) rs568628754 0.00001
NM_012414.4(RAB3GAP2):c.598G>A (p.Gly200Ser) rs748942795 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_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NC_000001.10:g.(?_220330592)_(220335630_?)del
NC_000001.10:g.(?_220345211)_(220375736_?)dup
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.*1694_*1695insACA rs143194915
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.*2512dup rs143756119
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
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.1030A>G (p.Asn344Asp) rs1174986383
NM_012414.4(RAB3GAP2):c.1038C>A (p.Ala346=)
NM_012414.4(RAB3GAP2):c.103C>T (p.Arg35Trp)
NM_012414.4(RAB3GAP2):c.1040+1G>T
NM_012414.4(RAB3GAP2):c.1040+7A>T
NM_012414.4(RAB3GAP2):c.1059A>G (p.Lys353=) rs371000771
NM_012414.4(RAB3GAP2):c.1076A>C (p.Glu359Ala)
NM_012414.4(RAB3GAP2):c.1078G>C (p.Ala360Pro)
NM_012414.4(RAB3GAP2):c.1083C>A (p.Val361=) rs2102871802
NM_012414.4(RAB3GAP2):c.1102G>A (p.Val368Ile)
NM_012414.4(RAB3GAP2):c.1105G>A (p.Glu369Lys) rs2102871785
NM_012414.4(RAB3GAP2):c.1125T>C (p.Ala375=)
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.1131-7A>C
NM_012414.4(RAB3GAP2):c.115+12T>C
NM_012414.4(RAB3GAP2):c.1151G>C (p.Arg384Thr)
NM_012414.4(RAB3GAP2):c.116-15T>C
NM_012414.4(RAB3GAP2):c.1183T>C (p.Cys395Arg) rs2102870921
NM_012414.4(RAB3GAP2):c.1194G>A (p.Leu398=)
NM_012414.4(RAB3GAP2):c.1201del (p.Ala400_Val401insTer)
NM_012414.4(RAB3GAP2):c.1216G>A (p.Gly406Ser)
NM_012414.4(RAB3GAP2):c.1260C>T (p.Arg420=) rs1658659314
NM_012414.4(RAB3GAP2):c.1262T>C (p.Met421Thr)
NM_012414.4(RAB3GAP2):c.1272G>A (p.Gly424=)
NM_012414.4(RAB3GAP2):c.1275C>T (p.Tyr425=)
NM_012414.4(RAB3GAP2):c.1278C>T (p.Arg426=)
NM_012414.4(RAB3GAP2):c.1283C>A (p.Ala428Glu) rs1658614059
NM_012414.4(RAB3GAP2):c.1306G>A (p.Val436Ile)
NM_012414.4(RAB3GAP2):c.1307T>C (p.Val436Ala)
NM_012414.4(RAB3GAP2):c.1328T>C (p.Val443Ala) rs1658613102
NM_012414.4(RAB3GAP2):c.1344T>C (p.Asp448=)
NM_012414.4(RAB3GAP2):c.1346T>A (p.Phe449Tyr)
NM_012414.4(RAB3GAP2):c.1347T>C (p.Phe449=)
NM_012414.4(RAB3GAP2):c.1348dup (p.Ser450fs)
NM_012414.4(RAB3GAP2):c.1367A>G (p.Gln456Arg)
NM_012414.4(RAB3GAP2):c.1373C>A (p.Pro458Gln) rs1468198640
NM_012414.4(RAB3GAP2):c.1376G>A (p.Ser459Asn)
NM_012414.4(RAB3GAP2):c.1378C>A (p.Arg460=)
NM_012414.4(RAB3GAP2):c.1379G>C (p.Arg460Pro) rs757551395
NM_012414.4(RAB3GAP2):c.1396G>C (p.Val466Leu) rs753527336
NM_012414.4(RAB3GAP2):c.1419A>G (p.Gly473=) rs886046022
NM_012414.4(RAB3GAP2):c.1424T>C (p.Leu475Ser)
NM_012414.4(RAB3GAP2):c.1431G>A (p.Val477=)
NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter) rs587777168
NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys)
NM_012414.4(RAB3GAP2):c.1446G>A (p.Gln482=)
NM_012414.4(RAB3GAP2):c.1463C>G (p.Ala488Gly) rs201655012
NM_012414.4(RAB3GAP2):c.1487+14G>A rs1658608277
NM_012414.4(RAB3GAP2):c.1488-14T>C
NM_012414.4(RAB3GAP2):c.1488-15A>G
NM_012414.4(RAB3GAP2):c.1511T>C (p.Ile504Thr) rs1553276414
NM_012414.4(RAB3GAP2):c.1516G>A (p.Gly506Ser) rs1658595836
NM_012414.4(RAB3GAP2):c.151G>A (p.Ala51Thr)
NM_012414.4(RAB3GAP2):c.151G>C (p.Ala51Pro)
NM_012414.4(RAB3GAP2):c.154T>C (p.Trp52Arg)
NM_012414.4(RAB3GAP2):c.157G>A (p.Glu53Lys)
NM_012414.4(RAB3GAP2):c.1580C>G (p.Pro527Arg) rs149563712
NM_012414.4(RAB3GAP2):c.1584G>T (p.Val528=) rs372216761
NM_012414.4(RAB3GAP2):c.1600A>G (p.Thr534Ala) rs886046021
NM_012414.4(RAB3GAP2):c.1622T>C (p.Leu541Ser)
NM_012414.4(RAB3GAP2):c.1624G>T (p.Ala542Ser)
NM_012414.4(RAB3GAP2):c.1631+10G>A
NM_012414.4(RAB3GAP2):c.1631+16T>C
NM_012414.4(RAB3GAP2):c.1631+6G>A rs780059285
NM_012414.4(RAB3GAP2):c.1631+6G>T
NM_012414.4(RAB3GAP2):c.1649G>A (p.Arg550Gln) rs1374925013
NM_012414.4(RAB3GAP2):c.1667T>G (p.Leu556Arg)
NM_012414.4(RAB3GAP2):c.1687T>G (p.Leu563Val)
NM_012414.4(RAB3GAP2):c.1712T>A (p.Leu571His) rs2102869135
NM_012414.4(RAB3GAP2):c.1714+5G>A
NM_012414.4(RAB3GAP2):c.1715-16del
NM_012414.4(RAB3GAP2):c.1715-1G>A
NM_012414.4(RAB3GAP2):c.1715-20_1715-17del
NM_012414.4(RAB3GAP2):c.172C>A (p.Gln58Lys)
NM_012414.4(RAB3GAP2):c.1761C>T (p.Tyr587=)
NM_012414.4(RAB3GAP2):c.1779+11A>G
NM_012414.4(RAB3GAP2):c.1779+16A>T
NM_012414.4(RAB3GAP2):c.1779+19C>T
NM_012414.4(RAB3GAP2):c.180+18T>C
NM_012414.4(RAB3GAP2):c.1814C>A (p.Pro605Gln)
NM_012414.4(RAB3GAP2):c.1870+8G>C
NM_012414.4(RAB3GAP2):c.1871-9G>A rs1358973733
NM_012414.4(RAB3GAP2):c.1884T>C (p.Val628=)
NM_012414.4(RAB3GAP2):c.1927C>T (p.Leu643=)
NM_012414.4(RAB3GAP2):c.1929G>A (p.Leu643=) rs1392025960
NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter) rs2102866096
NM_012414.4(RAB3GAP2):c.1995T>C (p.Asp665=)
NM_012414.4(RAB3GAP2):c.1998+1G>A rs2102866054
NM_012414.4(RAB3GAP2):c.1999-26GTTTT[2] rs764326258
NM_012414.4(RAB3GAP2):c.1999-2del
NM_012414.4(RAB3GAP2):c.2020C>T (p.Leu674Phe)
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.206C>T (p.Thr69Ile)
NM_012414.4(RAB3GAP2):c.2113G>A (p.Asp705Asn) rs906042384
NM_012414.4(RAB3GAP2):c.2163G>T (p.Lys721Asn)
NM_012414.4(RAB3GAP2):c.2170C>G (p.Leu724Val)
NM_012414.4(RAB3GAP2):c.2171T>C (p.Leu724Pro)
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs) rs1553275687
NM_012414.4(RAB3GAP2):c.2212+16C>T
NM_012414.4(RAB3GAP2):c.2212+18C>A
NM_012414.4(RAB3GAP2):c.2220C>A (p.Phe740Leu)
NM_012414.4(RAB3GAP2):c.2253C>T (p.Ser751=)
NM_012414.4(RAB3GAP2):c.2256T>C (p.Thr752=)
NM_012414.4(RAB3GAP2):c.2269C>T (p.His757Tyr) rs1553275637
NM_012414.4(RAB3GAP2):c.2276T>C (p.Leu759Ser)
NM_012414.4(RAB3GAP2):c.2283G>A (p.Ser761=)
NM_012414.4(RAB3GAP2):c.2287_2291del (p.Ala762_Gly763insTer)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2311-19del
NM_012414.4(RAB3GAP2):c.235G>C (p.Val79Leu)
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGG (p.Gln789_Ser790delinsArgLeuTrp) rs1658202227
NM_012414.4(RAB3GAP2):c.2366_2370delinsGACTGTGGTTTT (p.Gln789fs)
NM_012414.4(RAB3GAP2):c.2371A>G (p.Ile791Val)
NM_012414.4(RAB3GAP2):c.2403G>A (p.Leu801=) rs1571881674
NM_012414.4(RAB3GAP2):c.2416+18C>G
NM_012414.4(RAB3GAP2):c.2416+8_2416+9del rs769425345
NM_012414.4(RAB3GAP2):c.2424C>T (p.Ile808=)
NM_012414.4(RAB3GAP2):c.2428G>A (p.Glu810Lys)
NM_012414.4(RAB3GAP2):c.2453C>G (p.Ser818Cys)
NM_012414.4(RAB3GAP2):c.2454C>G (p.Ser818=) rs886046020
NM_012414.4(RAB3GAP2):c.2473C>G (p.Arg825Gly) rs374334249
NM_012414.4(RAB3GAP2):c.2477C>G (p.Thr826Arg) rs1658187235
NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter) rs2102859415
NM_012414.4(RAB3GAP2):c.2489A>G (p.Gln830Arg) rs2102859411
NM_012414.4(RAB3GAP2):c.24C>T (p.Phe8=)
NM_012414.4(RAB3GAP2):c.2508C>T (p.Ala836=)
NM_012414.4(RAB3GAP2):c.2509G>T (p.Ala837Ser)
NM_012414.4(RAB3GAP2):c.2523G>A (p.Ala841=)
NM_012414.4(RAB3GAP2):c.2525A>G (p.His842Arg)
NM_012414.4(RAB3GAP2):c.2532G>T (p.Gly844=)
NM_012414.4(RAB3GAP2):c.2546C>T (p.Ala849Val)
NM_012414.4(RAB3GAP2):c.2562C>T (p.Asn854=)
NM_012414.4(RAB3GAP2):c.2564T>A (p.Met855Lys) rs1658184967
NM_012414.4(RAB3GAP2):c.2578-5A>T
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.2586A>G (p.Gln862=)
NM_012414.4(RAB3GAP2):c.2611G>A (p.Ala871Thr)
NM_012414.4(RAB3GAP2):c.2624C>G (p.Ser875Cys) rs1571880860
NM_012414.4(RAB3GAP2):c.265A>G (p.Met89Val)
NM_012414.4(RAB3GAP2):c.2717A>G (p.Lys906Arg)
NM_012414.4(RAB3GAP2):c.2721G>A (p.Gly907=)
NM_012414.4(RAB3GAP2):c.2751G>T (p.Leu917=)
NM_012414.4(RAB3GAP2):c.2756C>G (p.Ala919Gly) rs2102858848
NM_012414.4(RAB3GAP2):c.2758G>A (p.Glu920Lys)
NM_012414.4(RAB3GAP2):c.2807-4A>G
NM_012414.4(RAB3GAP2):c.2810G>A (p.Gly937Asp) rs150834670
NM_012414.4(RAB3GAP2):c.2832G>A (p.Lys944=)
NM_012414.4(RAB3GAP2):c.284A>G (p.Gln95Arg) rs1659133093
NM_012414.4(RAB3GAP2):c.2852T>A (p.Phe951Tyr)
NM_012414.4(RAB3GAP2):c.2853C>G (p.Phe951Leu)
NM_012414.4(RAB3GAP2):c.2866T>C (p.Leu956=)
NM_012414.4(RAB3GAP2):c.2884G>A (p.Glu962Lys) rs1658094190
NM_012414.4(RAB3GAP2):c.2922T>A (p.Gly974=) rs1437597491
NM_012414.4(RAB3GAP2):c.2946A>G (p.Val982=)
NM_012414.4(RAB3GAP2):c.2978C>G (p.Pro993Arg)
NM_012414.4(RAB3GAP2):c.2980+7C>T
NM_012414.4(RAB3GAP2):c.2981-9_2981-6del rs766834201
NM_012414.4(RAB3GAP2):c.2986C>T (p.Leu996=)
NM_012414.4(RAB3GAP2):c.2988G>A (p.Leu996=) rs2102857054
NM_012414.4(RAB3GAP2):c.29A>G (p.Tyr10Cys)
NM_012414.4(RAB3GAP2):c.3012T>C (p.Pro1004=)
NM_012414.4(RAB3GAP2):c.3038A>C (p.His1013Pro)
NM_012414.4(RAB3GAP2):c.303G>A (p.Val101=)
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.304+15A>G
NM_012414.4(RAB3GAP2):c.304+19T>G
NM_012414.4(RAB3GAP2):c.304C>T (p.Pro102Ser)
NM_012414.4(RAB3GAP2):c.305-16A>T
NM_012414.4(RAB3GAP2):c.305-24_305-20del rs770097677
NM_012414.4(RAB3GAP2):c.305-6T>A
NM_012414.4(RAB3GAP2):c.3060C>T (p.Tyr1020=)
NM_012414.4(RAB3GAP2):c.3061G>A (p.Val1021Ile)
NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter) rs587777170
NM_012414.4(RAB3GAP2):c.3087+11C>T
NM_012414.4(RAB3GAP2):c.3087+12G>A
NM_012414.4(RAB3GAP2):c.3088-16T>C
NM_012414.4(RAB3GAP2):c.3088-5G>A
NM_012414.4(RAB3GAP2):c.3088-9G>A
NM_012414.4(RAB3GAP2):c.3101T>G (p.Phe1034Cys)
NM_012414.4(RAB3GAP2):c.310T>C (p.Trp104Arg) rs1553278790
NM_012414.4(RAB3GAP2):c.3141A>G (p.Ala1047=)
NM_012414.4(RAB3GAP2):c.3144T>C (p.His1048=)
NM_012414.4(RAB3GAP2):c.3145G>A (p.Val1049Ile)
NM_012414.4(RAB3GAP2):c.3147T>G (p.Val1049=)
NM_012414.4(RAB3GAP2):c.3152A>G (p.Asn1051Ser)
NM_012414.4(RAB3GAP2):c.3154+15G>C
NM_012414.4(RAB3GAP2):c.3154+3A>G rs1658032998
NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) rs121434310
NM_012414.4(RAB3GAP2):c.3155-14T>C
NM_012414.4(RAB3GAP2):c.3155-8C>T
NM_012414.4(RAB3GAP2):c.3156C>T (p.Gly1052=)
NM_012414.4(RAB3GAP2):c.3179C>T (p.Thr1060Met)
NM_012414.4(RAB3GAP2):c.3180G>A (p.Thr1060=) rs765738431
NM_012414.4(RAB3GAP2):c.3186A>G (p.Leu1062=)
NM_012414.4(RAB3GAP2):c.3198T>C (p.Phe1066=)
NM_012414.4(RAB3GAP2):c.3225+5G>C
NM_012414.4(RAB3GAP2):c.3226-12T>G
NM_012414.4(RAB3GAP2):c.3226-17T>C
NM_012414.4(RAB3GAP2):c.3232A>C (p.Lys1078Gln)
NM_012414.4(RAB3GAP2):c.3240A>G (p.Pro1080=) rs1289153615
NM_012414.4(RAB3GAP2):c.3257G>T (p.Arg1086Leu)
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3280A>C (p.Thr1094Pro)
NM_012414.4(RAB3GAP2):c.3288G>A (p.Met1096Ile)
NM_012414.4(RAB3GAP2):c.3291A>T (p.Thr1097=) rs1411747717
NM_012414.4(RAB3GAP2):c.3297C>T (p.Phe1099=)
NM_012414.4(RAB3GAP2):c.3301G>A (p.Gly1101Ser)
NM_012414.4(RAB3GAP2):c.3314A>G (p.Asp1105Gly)
NM_012414.4(RAB3GAP2):c.3321T>C (p.Leu1107=)
NM_012414.4(RAB3GAP2):c.3336+9G>C
NM_012414.4(RAB3GAP2):c.3337-8A>C
NM_012414.4(RAB3GAP2):c.3353A>T (p.Asp1118Val)
NM_012414.4(RAB3GAP2):c.3380C>G (p.Thr1127Ser)
NM_012414.4(RAB3GAP2):c.3385G>A (p.Asp1129Asn) rs1657877888
NM_012414.4(RAB3GAP2):c.3396C>T (p.Leu1132=)
NM_012414.4(RAB3GAP2):c.3399C>T (p.Ser1133=)
NM_012414.4(RAB3GAP2):c.3400G>A (p.Val1134Met) rs138489010
NM_012414.4(RAB3GAP2):c.3400G>C (p.Val1134Leu) rs138489010
NM_012414.4(RAB3GAP2):c.340del (p.Met114fs)
NM_012414.4(RAB3GAP2):c.3427C>T (p.Leu1143=)
NM_012414.4(RAB3GAP2):c.3471C>T (p.His1157=) rs200552845
NM_012414.4(RAB3GAP2):c.3551G>T (p.Ser1184Ile)
NM_012414.4(RAB3GAP2):c.3555+16del
NM_012414.4(RAB3GAP2):c.3556-8_3556-5del rs1289721687
NM_012414.4(RAB3GAP2):c.3558A>G (p.Gly1186=)
NM_012414.4(RAB3GAP2):c.3563A>C (p.Asn1188Thr)
NM_012414.4(RAB3GAP2):c.3586T>A (p.Ser1196Thr)
NM_012414.4(RAB3GAP2):c.359G>A (p.Trp120Ter)
NM_012414.4(RAB3GAP2):c.3613del (p.Met1205fs)
NM_012414.4(RAB3GAP2):c.3614T>G (p.Met1205Arg)
NM_012414.4(RAB3GAP2):c.3637C>T (p.Arg1213Ter) rs587777169
NM_012414.4(RAB3GAP2):c.3645+1del
NM_012414.4(RAB3GAP2):c.3646-21_3646-18del
NM_012414.4(RAB3GAP2):c.3690A>G (p.Ser1230=) rs1161462546
NM_012414.4(RAB3GAP2):c.3693C>T (p.Ala1231=)
NM_012414.4(RAB3GAP2):c.3704A>G (p.Lys1235Arg)
NM_012414.4(RAB3GAP2):c.3713C>T (p.Thr1238Ile)
NM_012414.4(RAB3GAP2):c.372A>G (p.Leu124=) rs2102881432
NM_012414.4(RAB3GAP2):c.3744A>G (p.Lys1248=)
NM_012414.4(RAB3GAP2):c.3752A>T (p.Asp1251Val) rs769405335
NM_012414.4(RAB3GAP2):c.3829G>C (p.Glu1277Gln) rs886046019
NM_012414.4(RAB3GAP2):c.3867+10A>G
NM_012414.4(RAB3GAP2):c.3868-18C>T
NM_012414.4(RAB3GAP2):c.387-18T>A
NM_012414.4(RAB3GAP2):c.387-2A>G rs769114540
NM_012414.4(RAB3GAP2):c.3876A>G (p.Leu1292=)
NM_012414.4(RAB3GAP2):c.3925G>A (p.Gly1309Arg)
NM_012414.4(RAB3GAP2):c.3940C>T (p.His1314Tyr)
NM_012414.4(RAB3GAP2):c.3942T>C (p.His1314=)
NM_012414.4(RAB3GAP2):c.3945G>A (p.Ala1315=)
NM_012414.4(RAB3GAP2):c.3956C>T (p.Thr1319Ile)
NM_012414.4(RAB3GAP2):c.3978G>T (p.Glu1326Asp) rs886046017
NM_012414.4(RAB3GAP2):c.3995del (p.Pro1332fs)
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.3G>A (p.Met1Ile) rs1381192866
NM_012414.4(RAB3GAP2):c.4026+12A>G
NM_012414.4(RAB3GAP2):c.4026+13G>A rs771446188
NM_012414.4(RAB3GAP2):c.4026+19G>C
NM_012414.4(RAB3GAP2):c.4026+7A>G
NM_012414.4(RAB3GAP2):c.4027-15G>C
NM_012414.4(RAB3GAP2):c.4029C>A (p.Asp1343Glu)
NM_012414.4(RAB3GAP2):c.4038C>T (p.Asp1346=)
NM_012414.4(RAB3GAP2):c.4051G>C (p.Glu1351Gln) rs1558136466
NM_012414.4(RAB3GAP2):c.4059A>C (p.Pro1353=)
NM_012414.4(RAB3GAP2):c.408A>G (p.Leu136=)
NM_012414.4(RAB3GAP2):c.4113A>G (p.Lys1371=)
NM_012414.4(RAB3GAP2):c.4119G>A (p.Gly1373=) rs763962470
NM_012414.4(RAB3GAP2):c.4164A>C (p.Ile1388=)
NM_012414.4(RAB3GAP2):c.4179A>G (p.Leu1393=)
NM_012414.4(RAB3GAP2):c.4180T>A (p.Ter1394Arg)
NM_012414.4(RAB3GAP2):c.435-15T>C
NM_012414.4(RAB3GAP2):c.462C>A (p.Thr154=)
NM_012414.4(RAB3GAP2):c.496C>T (p.Arg166Cys)
NM_012414.4(RAB3GAP2):c.499_507del (p.Phe167_Thr169del) rs1553278569
NM_012414.4(RAB3GAP2):c.503A>G (p.Tyr168Cys) rs1659068803
NM_012414.4(RAB3GAP2):c.510+17A>G
NM_012414.4(RAB3GAP2):c.511-18_511-17insCCTCTTGTTTCCTCTGTGCTTC rs747465884
NM_012414.4(RAB3GAP2):c.517G>A (p.Val173Met)
NM_012414.4(RAB3GAP2):c.546G>A (p.Glu182=)
NM_012414.4(RAB3GAP2):c.550C>T (p.Pro184Ser)
NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala)
NM_012414.4(RAB3GAP2):c.600C>T (p.Gly200=)
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-17T>C
NM_012414.4(RAB3GAP2):c.613-20T>G
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.613-6A>T
NM_012414.4(RAB3GAP2):c.613A>G (p.Asn205Asp)
NM_012414.4(RAB3GAP2):c.694C>T (p.Arg232Ter)
NM_012414.4(RAB3GAP2):c.700C>G (p.Gln234Glu) rs2102877645
NM_012414.4(RAB3GAP2):c.701A>G (p.Gln234Arg)
NM_012414.4(RAB3GAP2):c.702G>C (p.Gln234His) rs1658954750
NM_012414.4(RAB3GAP2):c.712+18A>T
NM_012414.4(RAB3GAP2):c.72C>T (p.His24=)
NM_012414.4(RAB3GAP2):c.745C>T (p.Pro249Ser)
NM_012414.4(RAB3GAP2):c.747A>C (p.Pro249=) rs780485524
NM_012414.4(RAB3GAP2):c.76C>A (p.Arg26=)
NM_012414.4(RAB3GAP2):c.770G>T (p.Gly257Val)
NM_012414.4(RAB3GAP2):c.811+17C>T
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012414.4(RAB3GAP2):c.873T>C (p.Asn291=) rs1463280020
NM_012414.4(RAB3GAP2):c.893C>T (p.Pro298Leu)
NM_012414.4(RAB3GAP2):c.898G>A (p.Ala300Thr)
NM_012414.4(RAB3GAP2):c.927C>A (p.Ser309=) rs1397365740
NM_012414.4(RAB3GAP2):c.927C>T (p.Ser309=)
NM_012414.4(RAB3GAP2):c.933A>G (p.Pro311=)
NM_012414.4(RAB3GAP2):c.960+16A>G
NM_012414.4(RAB3GAP2):c.960+17T>C
NM_012414.4(RAB3GAP2):c.972A>G (p.Gln324=)
NM_012414.4(RAB3GAP2):c.984C>T (p.Ser328=) rs1234105204

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