ClinVar Miner

List of variants in gene SYNGAP1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 375
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.762+32C>T rs453590 0.39879
NM_006772.3(SYNGAP1):c.296-160C>T rs9394145 0.23200
NM_006772.3(SYNGAP1):c.2295-168C>T rs78441724 0.09546
NM_006772.3(SYNGAP1):c.2295-91T>C rs55699469 0.09524
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_006772.3(SYNGAP1):c.2294+201T>G rs73741841 0.07869
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_006772.3(SYNGAP1):c.68-76C>T rs76557362 0.06465
NM_006772.3(SYNGAP1):c.763-265G>A rs60719642 0.05886
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
NM_006772.3(SYNGAP1):c.68-79T>G rs1755042 0.04634
NM_006772.3(SYNGAP1):c.388-173C>A rs58922452 0.03330
NM_006772.3(SYNGAP1):c.3409-24C>T rs9969005 0.02980
NM_006772.3(SYNGAP1):c.1531+52C>T rs45520731 0.02973
NM_006772.3(SYNGAP1):c.3408+180A>T rs41270541 0.01830
NM_006772.3(SYNGAP1):c.67+186G>A rs78525454 0.01804
NM_006772.3(SYNGAP1):c.2116-92A>G rs113487504 0.01309
NM_006772.3(SYNGAP1):c.190-148A>G rs114840747 0.01200
NC_000006.12:g.33419822G>C rs9688415 0.01199
NM_006772.3(SYNGAP1):c.3885+157C>G rs116172817 0.01196
NM_006772.3(SYNGAP1):c.387+32G>A rs114505996 0.01173
NM_006772.3(SYNGAP1):c.68-277C>G rs116373967 0.01172
NM_006772.3(SYNGAP1):c.387+67G>A rs116550709 0.01169
NM_006772.3(SYNGAP1):c.2295-25C>T rs115441992 0.00948
NM_006772.3(SYNGAP1):c.3344T>C (p.Ile1115Thr) rs191549504 0.00927
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_006772.3(SYNGAP1):c.1677-129_1677-128del rs567989593 0.00699
NM_006772.3(SYNGAP1):c.2295-209G>T rs115432767 0.00662
NM_006772.3(SYNGAP1):c.763-122C>T rs144595467 0.00619
NM_006772.3(SYNGAP1):c.295+87G>T rs540674955 0.00539
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NC_000006.12:g.33419836C>A rs115074978 0.00410
NM_006772.3(SYNGAP1):c.510-51G>A rs775494760 0.00360
NM_006772.3(SYNGAP1):c.2336+27T>C rs745374127 0.00254
NM_006772.3(SYNGAP1):c.2336+17T>C rs752795914 0.00252
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) rs145707539 0.00216
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_006772.3(SYNGAP1):c.189+29G>A rs183570634 0.00163
NM_006772.3(SYNGAP1):c.664-41C>T rs187391888 0.00145
NM_006772.3(SYNGAP1):c.1803G>A (p.Ala601=) rs77934848 0.00134
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_006772.3(SYNGAP1):c.296-8C>T rs201145910 0.00096
NM_006772.3(SYNGAP1):c.388-18T>C rs1561781809 0.00095
NM_006772.3(SYNGAP1):c.190-50G>A rs184952880 0.00092
NM_006772.3(SYNGAP1):c.1776A>G (p.Ser592=) rs150153477 0.00082
NM_006772.3(SYNGAP1):c.3297T>C (p.Tyr1099=) rs149016890 0.00082
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123 0.00071
NM_006772.3(SYNGAP1):c.510-50A>G rs572388344 0.00064
NM_006772.3(SYNGAP1):c.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_006772.3(SYNGAP1):c.762+46C>T rs373333437 0.00038
NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=) rs202178663 0.00034
NM_006772.3(SYNGAP1):c.3408+29G>A rs149566869 0.00032
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) rs147913000 0.00029
NM_006772.3(SYNGAP1):c.1913+36T>C rs199669547 0.00028
NM_006772.3(SYNGAP1):c.1677-9T>C rs754389007 0.00027
NM_006772.3(SYNGAP1):c.2658G>A (p.Ala886=) rs149467343 0.00024
NM_006772.3(SYNGAP1):c.2016G>A (p.Thr672=) rs57365292 0.00020
NM_006772.3(SYNGAP1):c.1446C>A (p.Leu482=) rs370597423 0.00016
NM_006772.3(SYNGAP1):c.1914-32A>G rs538693715 0.00016
NM_006772.3(SYNGAP1):c.2116-30A>C rs185437254 0.00016
NM_006772.3(SYNGAP1):c.3495G>A (p.Ser1165=) rs200386206 0.00016
NM_006772.3(SYNGAP1):c.1884G>A (p.Lys628=) rs140022772 0.00015
NM_006772.3(SYNGAP1):c.1914-48G>A rs139133669 0.00014
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=) rs201107225 0.00011
NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=) rs139050190 0.00011
NM_006772.3(SYNGAP1):c.2337-10C>G rs371436958 0.00011
NM_006772.3(SYNGAP1):c.1158G>A (p.Gly386=) rs1443802147 0.00010
NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=) rs149727287 0.00009
NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=) rs759995681 0.00009
NM_006772.3(SYNGAP1):c.3583-45G>C rs369119284 0.00009
NM_006772.3(SYNGAP1):c.2242C>T (p.Leu748=) rs377301201 0.00008
NM_006772.3(SYNGAP1):c.3364G>A (p.Gly1122Ser) rs755386745 0.00008
NM_006772.3(SYNGAP1):c.228C>T (p.Ser76=) rs147049139 0.00007
NM_006772.3(SYNGAP1):c.1311C>T (p.Pro437=) rs777952612 0.00006
NM_006772.3(SYNGAP1):c.1532-5C>G rs928381854 0.00006
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.2742C>T (p.Asp914=) rs534933618 0.00006
NM_006772.3(SYNGAP1):c.3045T>C (p.Thr1015=) rs753746117 0.00006
NM_006772.3(SYNGAP1):c.2388A>G (p.Pro796=) rs756541754 0.00005
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) rs141341400 0.00005
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.295+39G>T rs752202770 0.00005
NM_006772.3(SYNGAP1):c.*4A>G rs781535944 0.00004
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396 0.00004
NM_006772.3(SYNGAP1):c.773G>A (p.Arg258His) rs538281267 0.00004
NM_006772.3(SYNGAP1):c.1771G>A (p.Ala591Thr) rs946029100 0.00003
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) rs192497085 0.00003
NM_006772.3(SYNGAP1):c.2362T>A (p.Ser788Thr) rs201062426 0.00003
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) rs552867155 0.00003
NM_006772.3(SYNGAP1):c.2520T>C (p.Ser840=) rs778341826 0.00003
NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=) rs749949430 0.00003
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_006772.3(SYNGAP1):c.4002C>T (p.Asn1334=) rs201509029 0.00003
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.1532-28C>A rs367839297 0.00002
NM_006772.3(SYNGAP1):c.1677-8C>T rs755438249 0.00002
NM_006772.3(SYNGAP1):c.2361C>T (p.Pro787=) rs775679543 0.00002
NM_006772.3(SYNGAP1):c.2418C>T (p.Phe806=) rs764203322 0.00002
NM_006772.3(SYNGAP1):c.3055C>T (p.Arg1019Cys) rs777763120 0.00002
NM_006772.3(SYNGAP1):c.3056G>A (p.Arg1019His) rs747078316 0.00002
NM_006772.3(SYNGAP1):c.3181G>T (p.Gly1061Cys) rs753645263 0.00002
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) rs777482147 0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_006772.3(SYNGAP1):c.1025A>G (p.Tyr342Cys) rs777562660 0.00001
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=) rs1385235040 0.00001
NM_006772.3(SYNGAP1):c.1213C>T (p.Arg405Cys) rs751466510 0.00001
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys) rs762142487 0.00001
NM_006772.3(SYNGAP1):c.1224A>G (p.Thr408=) rs780138803 0.00001
NM_006772.3(SYNGAP1):c.1251T>C (p.Tyr417=) rs755250466 0.00001
NM_006772.3(SYNGAP1):c.1350A>G (p.Ala450=) rs751331097 0.00001
NM_006772.3(SYNGAP1):c.1730C>G (p.Ala577Gly) rs1761009822 0.00001
NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=) rs373857862 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 0.00001
NM_006772.3(SYNGAP1):c.2221C>T (p.Pro741Ser) rs760257950 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_006772.3(SYNGAP1):c.2568C>T (p.Asn856=) rs137894267 0.00001
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=) rs769826724 0.00001
NM_006772.3(SYNGAP1):c.2811T>C (p.Asp937=) rs1449497761 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_006772.3(SYNGAP1):c.2943C>T (p.Gly981=) rs202074092 0.00001
NM_006772.3(SYNGAP1):c.29G>C (p.Arg10Pro) rs866982002 0.00001
NM_006772.3(SYNGAP1):c.3022G>A (p.Asp1008Asn) rs1156508338 0.00001
NM_006772.3(SYNGAP1):c.303C>A (p.His101Gln) rs1434337349 0.00001
NM_006772.3(SYNGAP1):c.3171C>T (p.Ser1057=) rs761405990 0.00001
NM_006772.3(SYNGAP1):c.3198T>G (p.Pro1066=) rs781201249 0.00001
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) rs764952741 0.00001
NM_006772.3(SYNGAP1):c.3369C>T (p.Gly1123=) rs779377737 0.00001
NM_006772.3(SYNGAP1):c.3374G>C (p.Gly1125Ala) rs1170784913 0.00001
NM_006772.3(SYNGAP1):c.3624G>C (p.Arg1208=) rs1476852507 0.00001
NM_006772.3(SYNGAP1):c.3780G>A (p.Lys1260=) rs993798547 0.00001
NM_006772.3(SYNGAP1):c.388-4C>G rs1358028598 0.00001
NM_006772.3(SYNGAP1):c.3922C>T (p.Arg1308Cys) rs918621494 0.00001
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys) rs1760889495 0.00001
NM_006772.3(SYNGAP1):c.-1G>A
NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del) rs2151169092
NM_006772.3(SYNGAP1):c.102C>A (p.Tyr34Ter) rs147913000
NM_006772.3(SYNGAP1):c.1045C>T (p.Pro349Ser) rs2151169190
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.114G>T (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.1154C>T (p.Ser385Leu) rs766006911
NM_006772.3(SYNGAP1):c.1161T>G (p.Gly387=)
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs) rs1060503378
NM_006772.3(SYNGAP1):c.1167del (p.Gly391fs)
NM_006772.3(SYNGAP1):c.1194G>A (p.Pro398=)
NM_006772.3(SYNGAP1):c.1199T>A (p.Val400Glu) rs1581987752
NM_006772.3(SYNGAP1):c.1214G>C (p.Arg405Pro)
NM_006772.3(SYNGAP1):c.1224_1226del (p.Met409del) rs2151169927
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter) rs1554121273
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) rs2151170078
NM_006772.3(SYNGAP1):c.1296dup (p.Ala433fs) rs1581987902
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs) rs1760906699
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
NM_006772.3(SYNGAP1):c.1329C>T (p.Gly443=) rs2151170280
NM_006772.3(SYNGAP1):c.1345dup (p.Ser449fs) rs1554121295
NM_006772.3(SYNGAP1):c.1349C>A (p.Ala450Glu) rs1189124390
NM_006772.3(SYNGAP1):c.13C>T (p.Arg5Ter) rs2151121492
NM_006772.3(SYNGAP1):c.1409T>C (p.Met470Thr) rs2151171048
NM_006772.3(SYNGAP1):c.1423C>T (p.Arg475Trp) rs1760915141
NM_006772.3(SYNGAP1):c.1428C>G (p.Phe476Leu) rs1349979668
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe) rs1554121340
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
NM_006772.3(SYNGAP1):c.1502T>C (p.Ile501Thr)
NM_006772.3(SYNGAP1):c.1505G>A (p.Gly502Asp) rs1554121354
NM_006772.3(SYNGAP1):c.1529T>G (p.Ile510Ser) rs1554121364
NM_006772.3(SYNGAP1):c.1531+1del rs2151171434
NM_006772.3(SYNGAP1):c.1531G>C (p.Gly511Arg) rs1554121365
NM_006772.3(SYNGAP1):c.1540A>T (p.Ile514Phe)
NM_006772.3(SYNGAP1):c.1579G>T (p.Asp527Tyr) rs1760932359
NM_006772.3(SYNGAP1):c.1602_1603del (p.Ser535fs) rs2151172527
NM_006772.3(SYNGAP1):c.1621G>C (p.Ala541Pro) rs1554121439
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1639T>C (p.Cys547Arg) rs2151172638
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1673A>G (p.His558Arg)
NM_006772.3(SYNGAP1):c.1676+213dup rs57069921
NM_006772.3(SYNGAP1):c.1677-40TC[7] rs138475712
NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met)
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1697AGG[1] (p.Glu567del) rs2151180443
NM_006772.3(SYNGAP1):c.169C>T (p.Leu57Phe)
NM_006772.3(SYNGAP1):c.1706T>C (p.Phe569Ser)
NM_006772.3(SYNGAP1):c.1716G>A (p.Trp572Ter) rs1057518178
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1718G>A (p.Arg573Gln) rs1554121685
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp) rs2151180654
NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met) rs1761010544
NM_006772.3(SYNGAP1):c.1763T>A (p.Leu588His) rs1064795645
NM_006772.3(SYNGAP1):c.1763T>C (p.Leu588Pro)
NM_006772.3(SYNGAP1):c.1778T>A (p.Leu593His)
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1787G>T (p.Arg596Leu)
NM_006772.3(SYNGAP1):c.1792del (p.Leu598fs) rs1131691635
NM_006772.3(SYNGAP1):c.1861C>T (p.Arg621Ter) rs1060503386
NM_006772.3(SYNGAP1):c.1913+2T>G rs2151181133
NM_006772.3(SYNGAP1):c.1913+45_1913+59del rs572578854
NM_006772.3(SYNGAP1):c.1914-32_1914-29del rs561866153
NM_006772.3(SYNGAP1):c.1914-59TG[11] rs112678454
NM_006772.3(SYNGAP1):c.1914-59TG[12] rs112678454
NM_006772.3(SYNGAP1):c.1914-59TG[14] rs112678454
NM_006772.3(SYNGAP1):c.1914-59TG[15] rs112678454
NM_006772.3(SYNGAP1):c.1914-60_1914-51del rs146262788
NM_006772.3(SYNGAP1):c.1947G>C (p.Met649Ile) rs2151182327
NM_006772.3(SYNGAP1):c.196C>G (p.Pro66Ala) rs1776941906
NM_006772.3(SYNGAP1):c.1976C>T (p.Ser659Phe) rs2151182395
NM_006772.3(SYNGAP1):c.198C>G (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2003C>T (p.Ser668Phe) rs2151182460
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met) rs1405483444
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2086C>G (p.Leu696Val)
NM_006772.3(SYNGAP1):c.2104C>T (p.Gln702Ter) rs1554121861
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn) rs1057518786
NM_006772.3(SYNGAP1):c.2197C>T (p.Gln733Ter) rs1554121924
NM_006772.3(SYNGAP1):c.2210A>C (p.Gln737Pro)
NM_006772.3(SYNGAP1):c.2215G>C (p.Glu739Gln)
NM_006772.3(SYNGAP1):c.2224C>T (p.Arg742Trp)
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter) rs1554121947
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg) rs886868218
NM_006772.3(SYNGAP1):c.2282G>C (p.Arg761Pro) rs1203597280
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2294+1G>T rs1554121970
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter) rs1554122080
NM_006772.3(SYNGAP1):c.2336+23G>C rs371700905
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) rs1761087122
NM_006772.3(SYNGAP1):c.2418del (p.Tyr807fs) rs1554122179
NM_006772.3(SYNGAP1):c.2434C>T (p.Pro812Ser) rs2151188091
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) rs397515320
NM_006772.3(SYNGAP1):c.2443C>G (p.Arg815Gly) rs1216243827
NM_006772.3(SYNGAP1):c.2444G>T (p.Arg815Leu)
NM_006772.3(SYNGAP1):c.2454_2456delinsG (p.Ala819fs) rs1581995609
NM_006772.3(SYNGAP1):c.2494C>T (p.Gln832Ter) rs1554122196
NM_006772.3(SYNGAP1):c.250C>G (p.Arg84Gly) rs2151134609
NM_006772.3(SYNGAP1):c.2514C>A (p.Asn838Lys) rs1192656888
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr) rs1561788965
NM_006772.3(SYNGAP1):c.2525_2528dup (p.Met843fs) rs1761093830
NM_006772.3(SYNGAP1):c.2539C>T (p.Gln847Ter) rs1554122200
NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu)
NM_006772.3(SYNGAP1):c.263T>C (p.Val88Ala)
NM_006772.3(SYNGAP1):c.266C>T (p.Pro89Leu) rs1554119830
NM_006772.3(SYNGAP1):c.2711T>C (p.Met904Thr) rs2151188795
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val) rs2151188913
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2764C>T (p.Arg922Ter) rs1554122244
NM_006772.3(SYNGAP1):c.277C>G (p.Arg93Gly)
NM_006772.3(SYNGAP1):c.2852_2857del (p.His951_Gly952del)
NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=) rs535906467
NM_006772.3(SYNGAP1):c.2858C>A (p.Pro953Gln) rs2151189198
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.28C>T (p.Arg10Trp) rs1167492483
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) rs1064796547
NM_006772.3(SYNGAP1):c.291G>T (p.Glu97Asp) rs2151134743
NM_006772.3(SYNGAP1):c.2928T>G (p.Phe976Leu) rs1561789482
NM_006772.3(SYNGAP1):c.2945A>G (p.Tyr982Cys) rs2151189482
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg) rs145472959
NM_006772.3(SYNGAP1):c.2974del (p.Val992fs) rs1761108186
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs) rs1554122276
NM_006772.3(SYNGAP1):c.3036del (p.Ser1013fs) rs1554122289
NM_006772.3(SYNGAP1):c.3041G>T (p.Gly1014Val) rs1581996568
NM_006772.3(SYNGAP1):c.3061C>T (p.Gln1021Ter)
NM_006772.3(SYNGAP1):c.3073C>T (p.Gln1025Ter) rs1554122296
NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)
NM_006772.3(SYNGAP1):c.3138del (p.Ser1047fs) rs2151190135
NM_006772.3(SYNGAP1):c.3154G>A (p.Gly1052Arg)
NM_006772.3(SYNGAP1):c.3168C>A (p.Gly1056=)
NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1]) rs774101585
NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=) rs1485118493
NM_006772.3(SYNGAP1):c.3179dup (p.Gly1061fs)
NM_006772.3(SYNGAP1):c.3180T>G (p.Gly1060=)
NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=) rs759449351
NM_006772.3(SYNGAP1):c.3227del (p.Gln1075_Leu1076insTer) rs1064796033
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.3246delinsAA (p.Pro1084fs) rs1554122348
NM_006772.3(SYNGAP1):c.3251C>A (p.Pro1084His)
NM_006772.3(SYNGAP1):c.3277C>T (p.Gln1093Ter) rs1554122363
NM_006772.3(SYNGAP1):c.3287A>C (p.Glu1096Ala)
NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs) rs1581997098
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
NM_006772.3(SYNGAP1):c.3345_3353dup (p.1118SGG[3]) rs1761121084
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[1] (p.1118SGG[1]) rs761763671
NM_006772.3(SYNGAP1):c.3354C>A (p.Ser1118Arg)
NM_006772.3(SYNGAP1):c.3361A>G (p.Ser1121Gly)
NM_006772.3(SYNGAP1):c.3377G>T (p.Gly1126Val) rs2151191157
NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=) rs749949430
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr) rs2151191254
NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn) rs1561790136
NM_006772.3(SYNGAP1):c.3415C>T (p.Gln1139Ter) rs1554122455
NM_006772.3(SYNGAP1):c.3415_3416del (p.Gln1139fs) rs1554122457
NM_006772.3(SYNGAP1):c.3471G>A (p.Trp1157Ter) rs1064796403
NM_006772.3(SYNGAP1):c.3487C>G (p.His1163Asp) rs2151192993
NM_006772.3(SYNGAP1):c.3511_3512delinsTG (p.Ala1171Cys)
NM_006772.3(SYNGAP1):c.355dup (p.Glu119fs) rs1554120489
NM_006772.3(SYNGAP1):c.3582+5G>A rs1323082596
NM_006772.3(SYNGAP1):c.3583-17G>A rs768465867
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3583-9G>A rs1554122689
NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter) rs1007979214
NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs) rs2151199493
NM_006772.3(SYNGAP1):c.3686A>C (p.Gln1229Pro) rs2151199539
NM_006772.3(SYNGAP1):c.3705G>A (p.Met1235Ile)
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.3788T>C (p.Ile1263Thr) rs1451330589
NM_006772.3(SYNGAP1):c.3794+63T>C rs3119027
NM_006772.3(SYNGAP1):c.3794+74G>T rs3119019
NM_006772.3(SYNGAP1):c.3795-7C>G rs1761241320
NM_006772.3(SYNGAP1):c.3824G>T (p.Arg1275Leu) rs1057520146
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) rs1374327029
NM_006772.3(SYNGAP1):c.387+44C>A rs200171707
NM_006772.3(SYNGAP1):c.388-1G>C
NM_006772.3(SYNGAP1):c.388-27C>A rs1561781788
NM_006772.3(SYNGAP1):c.388-2A>C
NM_006772.3(SYNGAP1):c.388-30dup rs1255453970
NM_006772.3(SYNGAP1):c.388-3dup rs771107621
NM_006772.3(SYNGAP1):c.391G>C (p.Gly131Arg)
NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=) rs774453156
NM_006772.3(SYNGAP1):c.3963A>C (p.Pro1321=) rs764754365
NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs)
NM_006772.3(SYNGAP1):c.3968_3969insCCCCC (p.Pro1325fs)
NM_006772.3(SYNGAP1):c.3977C>G (p.Pro1326Arg)
NM_006772.3(SYNGAP1):c.3983G>C (p.Arg1328Pro) rs767447413
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) rs1292609217
NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=) rs1561794001
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.44C>T (p.Ala15Val)
NM_006772.3(SYNGAP1):c.451G>C (p.Asp151His)
NM_006772.3(SYNGAP1):c.472C>T (p.Gln158Ter) rs1085307871
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys) rs1554120589
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.508C>T (p.Arg170Trp) rs1777198713
NM_006772.3(SYNGAP1):c.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191
NM_006772.3(SYNGAP1):c.510-199dup rs373773732
NM_006772.3(SYNGAP1):c.510-205_510-199dup rs373773732
NM_006772.3(SYNGAP1):c.510-206_510-199dup rs373773732
NM_006772.3(SYNGAP1):c.510-45T>G rs750491221
NM_006772.3(SYNGAP1):c.510-49del rs371293417
NM_006772.3(SYNGAP1):c.510-53dup rs28381596
NM_006772.3(SYNGAP1):c.510-54_510-53dup rs28381596
NM_006772.3(SYNGAP1):c.510-55_510-53dup rs28381596
NM_006772.3(SYNGAP1):c.535del (p.Glu179fs) rs786205649
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu) rs1562867414
NM_006772.3(SYNGAP1):c.611C>G (p.Ser204Cys) rs2151161251
NM_006772.3(SYNGAP1):c.646C>T (p.Gln216Ter) rs1554120941
NM_006772.3(SYNGAP1):c.663+1G>A rs1064797322
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val) rs1166557922
NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=) rs745547755
NM_006772.3(SYNGAP1):c.718_719del (p.Asp240fs) rs1777306901
NM_006772.3(SYNGAP1):c.763-1G>A
NM_006772.3(SYNGAP1):c.790_798del (p.Leu264_Leu266del) rs1554121164
NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=) rs1325101897
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006772.3(SYNGAP1):c.835C>T (p.Arg279Trp) rs2151168530
NM_006772.3(SYNGAP1):c.844T>A (p.Cys282Ser)
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg) rs1581987022
NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn)
NM_006772.3(SYNGAP1):c.877C>T (p.Arg293Cys)
NM_006772.3(SYNGAP1):c.899C>T (p.Ser300Phe) rs2151168751
NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr) rs1581987146
NM_006772.3(SYNGAP1):c.922T>C (p.Trp308Arg) rs1057524025
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) rs1554121202
NM_006772.3(SYNGAP1):c.926del (p.Gly309fs) rs1760890595
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006772.3(SYNGAP1):c.949del (p.Leu317fs) rs1554121211
NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu) rs780238395
NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)

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