ClinVar Miner

List of variants in gene SYNGAP1 reported as likely benign for Intellectual disability, autosomal dominant 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 548
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.84T>C (p.Ser28=) rs142359891 0.00815
NM_006772.3(SYNGAP1):c.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_006772.3(SYNGAP1):c.3582+7T>C rs370618729 0.00193
NM_006772.3(SYNGAP1):c.1581C>T (p.Asp527=) rs202178663 0.00034
NM_006772.3(SYNGAP1):c.102C>T (p.Tyr34=) rs147913000 0.00029
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.3495G>A (p.Ser1165=) rs200386206 0.00016
NM_006772.3(SYNGAP1):c.1884G>A (p.Lys628=) rs140022772 0.00015
NM_006772.3(SYNGAP1):c.3963A>T (p.Pro1321=) rs764754365 0.00012
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.2336+19C>T rs374383698 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.2242C>T (p.Leu748=) rs377301201 0.00008
NM_006772.3(SYNGAP1):c.228C>T (p.Ser76=) rs147049139 0.00007
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730 0.00007
NM_006772.3(SYNGAP1):c.1311C>T (p.Pro437=) rs777952612 0.00006
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.2394G>A (p.Pro798=) rs138404495 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.2436C>T (p.Pro812=) rs774728632 0.00005
NM_006772.3(SYNGAP1):c.2840G>C (p.Gly947Ala) rs553102986 0.00005
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) rs141341400 0.00005
NM_006772.3(SYNGAP1):c.3564T>C (p.Asp1188=) rs775322599 0.00005
NM_006772.3(SYNGAP1):c.3603G>A (p.Glu1201=) rs759691617 0.00005
NM_006772.3(SYNGAP1):c.1137G>A (p.Ser379=) rs1471355033 0.00004
NM_006772.3(SYNGAP1):c.1305G>A (p.Leu435=) rs776326092 0.00004
NM_006772.3(SYNGAP1):c.1653G>C (p.Leu551=) rs768223757 0.00004
NM_006772.3(SYNGAP1):c.1677-15G>A rs766593480 0.00004
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_006772.3(SYNGAP1):c.2710A>G (p.Met904Val) rs748165064 0.00004
NM_006772.3(SYNGAP1):c.3156G>A (p.Gly1052=) rs764849812 0.00004
NM_006772.3(SYNGAP1):c.3264C>T (p.Ser1088=) rs779570828 0.00004
NM_006772.3(SYNGAP1):c.3354C>T (p.Ser1118=) rs756351837 0.00004
NM_006772.3(SYNGAP1):c.3795-10G>A rs1176345733 0.00004
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_006772.3(SYNGAP1):c.388-20C>T rs541592785 0.00004
NM_006772.3(SYNGAP1):c.3886-10T>C rs746981989 0.00004
NM_006772.3(SYNGAP1):c.3942G>A (p.Pro1314=) rs372190836 0.00004
NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=) rs138286163 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.2295-19del rs769960016 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.2628G>A (p.Ser876=) rs773687127 0.00003
NM_006772.3(SYNGAP1):c.2669G>C (p.Arg890Pro) rs369681579 0.00003
NM_006772.3(SYNGAP1):c.295+9G>C rs1776945472 0.00003
NM_006772.3(SYNGAP1):c.3054C>G (p.Thr1018=) rs754909607 0.00003
NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=) rs749949430 0.00003
NM_006772.3(SYNGAP1):c.3849G>A (p.Pro1283=) rs1014733325 0.00003
NM_006772.3(SYNGAP1):c.4002C>T (p.Asn1334=) rs201509029 0.00003
NM_006772.3(SYNGAP1):c.1191C>T (p.Cys397=) rs1554121262 0.00002
NM_006772.3(SYNGAP1):c.1248A>G (p.Leu416=) rs749336514 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.1572C>T (p.Cys524=) rs763080466 0.00002
NM_006772.3(SYNGAP1):c.166C>T (p.Leu56=) rs756521441 0.00002
NM_006772.3(SYNGAP1):c.1677-4C>G rs538524761 0.00002
NM_006772.3(SYNGAP1):c.1677-8C>T rs755438249 0.00002
NM_006772.3(SYNGAP1):c.1862G>A (p.Arg621Gln) rs756823385 0.00002
NM_006772.3(SYNGAP1):c.2118A>G (p.Glu706=) rs149131236 0.00002
NM_006772.3(SYNGAP1):c.2256G>A (p.Ser752=) rs373755298 0.00002
NM_006772.3(SYNGAP1):c.2316C>T (p.Phe772=) rs182565988 0.00002
NM_006772.3(SYNGAP1):c.2361C>T (p.Pro787=) rs775679543 0.00002
NM_006772.3(SYNGAP1):c.2700G>A (p.Thr900=) rs757132718 0.00002
NM_006772.3(SYNGAP1):c.2704G>A (p.Ala902Thr) rs148703943 0.00002
NM_006772.3(SYNGAP1):c.2829C>T (p.Gly943=) rs1185150405 0.00002
NM_006772.3(SYNGAP1):c.3055C>T (p.Arg1019Cys) rs777763120 0.00002
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) rs767071930 0.00002
NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=) rs776355446 0.00002
NM_006772.3(SYNGAP1):c.3558G>A (p.Ser1186=) rs769414725 0.00002
NM_006772.3(SYNGAP1):c.372G>A (p.Ala124=) rs748895452 0.00002
NM_006772.3(SYNGAP1):c.432G>A (p.Thr144=) rs765193793 0.00002
NM_006772.3(SYNGAP1):c.582G>A (p.Glu194=) rs769637893 0.00002
NM_006772.3(SYNGAP1):c.786T>C (p.Asn262=) rs755664512 0.00002
NM_006772.3(SYNGAP1):c.1029C>T (p.Val343=) rs1458773044 0.00001
NM_006772.3(SYNGAP1):c.1066C>T (p.Arg356Cys) rs144778033 0.00001
NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=) rs1385235040 0.00001
NM_006772.3(SYNGAP1):c.1155G>A (p.Ser385=) rs753355335 0.00001
NM_006772.3(SYNGAP1):c.1214G>A (p.Arg405His) rs757140336 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.1416G>A (p.Glu472=) rs774181787 0.00001
NM_006772.3(SYNGAP1):c.1441C>T (p.His481Tyr) rs760611173 0.00001
NM_006772.3(SYNGAP1):c.1461C>T (p.Asn487=) rs1182407212 0.00001
NM_006772.3(SYNGAP1):c.1531+8C>T rs368508871 0.00001
NM_006772.3(SYNGAP1):c.1676+14C>T rs747828691 0.00001
NM_006772.3(SYNGAP1):c.1677-12C>A rs975458793 0.00001
NM_006772.3(SYNGAP1):c.1723C>T (p.Arg575Cys) rs758101067 0.00001
NM_006772.3(SYNGAP1):c.1728C>T (p.Cys576=) rs576589974 0.00001
NM_006772.3(SYNGAP1):c.1770C>T (p.Ser590=) rs571865766 0.00001
NM_006772.3(SYNGAP1):c.1783C>T (p.Leu595=) rs761973471 0.00001
NM_006772.3(SYNGAP1):c.1842C>T (p.Tyr614=) rs1183805417 0.00001
NM_006772.3(SYNGAP1):c.1878T>C (p.Ile626=) rs1354630489 0.00001
NM_006772.3(SYNGAP1):c.190-7C>T rs753440517 0.00001
NM_006772.3(SYNGAP1):c.190-8T>C rs1456594190 0.00001
NM_006772.3(SYNGAP1):c.1914-18T>G rs777956700 0.00001
NM_006772.3(SYNGAP1):c.1920C>T (p.Thr640=) rs1189021984 0.00001
NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=) rs373857862 0.00001
NM_006772.3(SYNGAP1):c.1977C>T (p.Ser659=) rs1228056538 0.00001
NM_006772.3(SYNGAP1):c.2017C>T (p.Leu673=) rs1160089875 0.00001
NM_006772.3(SYNGAP1):c.2022C>A (p.Thr674=) rs751139115 0.00001
NM_006772.3(SYNGAP1):c.2116-4C>G rs925997309 0.00001
NM_006772.3(SYNGAP1):c.2195G>A (p.Arg732Lys) rs934177451 0.00001
NM_006772.3(SYNGAP1):c.2214T>C (p.Ser738=) rs1243545018 0.00001
NM_006772.3(SYNGAP1):c.2301C>T (p.Ile767=) rs775210377 0.00001
NM_006772.3(SYNGAP1):c.2352T>C (p.Ala784=) rs1286625722 0.00001
NM_006772.3(SYNGAP1):c.244C>T (p.Leu82=) rs1429126574 0.00001
NM_006772.3(SYNGAP1):c.2460C>T (p.Tyr820=) rs756696815 0.00001
NM_006772.3(SYNGAP1):c.2466G>A (p.Thr822=) rs145297490 0.00001
NM_006772.3(SYNGAP1):c.2487G>A (p.Glu829=) rs1313871439 0.00001
NM_006772.3(SYNGAP1):c.255A>G (p.Thr85=) rs1406860949 0.00001
NM_006772.3(SYNGAP1):c.2565C>T (p.Leu855=) rs752424744 0.00001
NM_006772.3(SYNGAP1):c.2568C>T (p.Asn856=) rs137894267 0.00001
NM_006772.3(SYNGAP1):c.2592G>A (p.Ala864=) rs989713108 0.00001
NM_006772.3(SYNGAP1):c.2595C>T (p.Ala865=) rs745742397 0.00001
NM_006772.3(SYNGAP1):c.2713C>T (p.Arg905Cys) rs992305960 0.00001
NM_006772.3(SYNGAP1):c.2811T>C (p.Asp937=) rs1449497761 0.00001
NM_006772.3(SYNGAP1):c.2844C>T (p.Gly948=) rs753093321 0.00001
NM_006772.3(SYNGAP1):c.28C>A (p.Arg10=) rs1167492483 0.00001
NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=) rs1060504899 0.00001
NM_006772.3(SYNGAP1):c.2943C>T (p.Gly981=) rs202074092 0.00001
NM_006772.3(SYNGAP1):c.2967T>C (p.Ser989=) rs1337054733 0.00001
NM_006772.3(SYNGAP1):c.3039T>C (p.Ser1013=) rs766146054 0.00001
NM_006772.3(SYNGAP1):c.3114C>T (p.Thr1038=) rs746033927 0.00001
NM_006772.3(SYNGAP1):c.3171C>T (p.Ser1057=) rs761405990 0.00001
NM_006772.3(SYNGAP1):c.3183C>T (p.Gly1061=) rs759449351 0.00001
NM_006772.3(SYNGAP1):c.3195G>A (p.Pro1065=) rs752562193 0.00001
NM_006772.3(SYNGAP1):c.3197C>T (p.Pro1066Leu) rs757344392 0.00001
NM_006772.3(SYNGAP1):c.3198T>G (p.Pro1066=) rs781201249 0.00001
NM_006772.3(SYNGAP1):c.3282C>T (p.Ser1094=) rs771736819 0.00001
NM_006772.3(SYNGAP1):c.3369C>T (p.Gly1123=) rs779377737 0.00001
NM_006772.3(SYNGAP1):c.3583-18C>T rs1343189146 0.00001
NM_006772.3(SYNGAP1):c.3583-4G>A rs1761207395 0.00001
NM_006772.3(SYNGAP1):c.3594C>T (p.Tyr1198=) rs1007979214 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.3794+9C>T rs754561020 0.00001
NM_006772.3(SYNGAP1):c.3795-11C>T rs1213528217 0.00001
NM_006772.3(SYNGAP1):c.387+16C>G rs760453243 0.00001
NM_006772.3(SYNGAP1):c.388-4C>G rs1358028598 0.00001
NM_006772.3(SYNGAP1):c.3886-5T>C rs1215747659 0.00001
NM_006772.3(SYNGAP1):c.393C>T (p.Gly131=) rs747021068 0.00001
NM_006772.3(SYNGAP1):c.3995C>T (p.Thr1332Met) rs779015339 0.00001
NM_006772.3(SYNGAP1):c.591G>A (p.Glu197=) rs1777297993 0.00001
NM_006772.3(SYNGAP1):c.627G>A (p.Val209=) rs1024950590 0.00001
NM_006772.3(SYNGAP1):c.664-13C>T rs1272035734 0.00001
NM_006772.3(SYNGAP1):c.67+20G>T rs1291904263 0.00001
NM_006772.3(SYNGAP1):c.680G>A (p.Gly227Glu) rs1025271834 0.00001
NM_006772.3(SYNGAP1):c.723A>G (p.Lys241=) rs780035236 0.00001
NM_006772.3(SYNGAP1):c.763-5G>A rs1454552998 0.00001
NM_006772.3(SYNGAP1):c.78A>C (p.Gly26=) rs773184002 0.00001
NM_006772.3(SYNGAP1):c.896G>A (p.Arg299His) rs1385831038 0.00001
NM_006772.3(SYNGAP1):c.915C>T (p.Thr305=) rs370654601 0.00001
NM_006772.3(SYNGAP1):c.933C>T (p.His311=) rs1297876051 0.00001
NM_006772.3(SYNGAP1):c.939G>A (p.Glu313=) rs373371204 0.00001
NC_000006.12:g.33423588ATGAGG[3] rs2151129780
NM_006772.3(SYNGAP1):c.1047A>G (p.Pro349=)
NM_006772.3(SYNGAP1):c.1067G>A (p.Arg356His)
NM_006772.3(SYNGAP1):c.1095A>T (p.Val365=) rs2151169348
NM_006772.3(SYNGAP1):c.114G>A (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.114G>T (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.1164C>T (p.Gly388=)
NM_006772.3(SYNGAP1):c.1172G>T (p.Gly391Val) rs759298823
NM_006772.3(SYNGAP1):c.1218C>T (p.Tyr406=)
NM_006772.3(SYNGAP1):c.1231A>G (p.Ile411Val) rs2151169932
NM_006772.3(SYNGAP1):c.1245G>A (p.Glu415=)
NM_006772.3(SYNGAP1):c.1257G>A (p.Glu419=)
NM_006772.3(SYNGAP1):c.1278C>T (p.Asn426=)
NM_006772.3(SYNGAP1):c.1302C>A (p.Val434=)
NM_006772.3(SYNGAP1):c.1303T>C (p.Leu435=) rs555077905
NM_006772.3(SYNGAP1):c.1314C>T (p.Ala438=)
NM_006772.3(SYNGAP1):c.1341T>A (p.Val447=) rs2151170322
NM_006772.3(SYNGAP1):c.1374A>T (p.Thr458=) rs1760908952
NM_006772.3(SYNGAP1):c.1386+10G>T
NM_006772.3(SYNGAP1):c.1386+10del rs2151170476
NM_006772.3(SYNGAP1):c.1407C>T (p.Ala469=) rs1581988356
NM_006772.3(SYNGAP1):c.1408A>C (p.Met470Leu) rs1554121320
NM_006772.3(SYNGAP1):c.141G>A (p.Arg47=)
NM_006772.3(SYNGAP1):c.1435C>A (p.Arg479=)
NM_006772.3(SYNGAP1):c.1440G>A (p.Glu480=)
NM_006772.3(SYNGAP1):c.1446C>T (p.Leu482=) rs370597423
NM_006772.3(SYNGAP1):c.1447A>G (p.Ile483Val)
NM_006772.3(SYNGAP1):c.1454G>A (p.Arg485His)
NM_006772.3(SYNGAP1):c.1464G>A (p.Thr488=) rs778038638
NM_006772.3(SYNGAP1):c.1474A>G (p.Lys492Glu)
NM_006772.3(SYNGAP1):c.1488G>A (p.Glu496=) rs1581988521
NM_006772.3(SYNGAP1):c.1498C>T (p.Leu500=) rs1581988553
NM_006772.3(SYNGAP1):c.1531+19C>A
NM_006772.3(SYNGAP1):c.1531+7C>T
NM_006772.3(SYNGAP1):c.1531+9C>G rs2151171453
NM_006772.3(SYNGAP1):c.1532-12C>T
NM_006772.3(SYNGAP1):c.1532-13C>T
NM_006772.3(SYNGAP1):c.1532-17G>A
NM_006772.3(SYNGAP1):c.1532-20C>G
NM_006772.3(SYNGAP1):c.1532-20C>T
NM_006772.3(SYNGAP1):c.1532-6C>T
NM_006772.3(SYNGAP1):c.1532-8C>A
NM_006772.3(SYNGAP1):c.1551G>C (p.Leu517=) rs2151172315
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=) rs1554304681
NM_006772.3(SYNGAP1):c.1593C>T (p.Cys531=)
NM_006772.3(SYNGAP1):c.1599A>T (p.Ala533=)
NM_006772.3(SYNGAP1):c.1610C>T (p.Ala537Val) rs895921108
NM_006772.3(SYNGAP1):c.1625A>G (p.Asn542Ser) rs1760933953
NM_006772.3(SYNGAP1):c.1629G>A (p.Leu543=)
NM_006772.3(SYNGAP1):c.1667A>T (p.Asn556Ile)
NM_006772.3(SYNGAP1):c.1671C>T (p.Ser557=) rs2151172737
NM_006772.3(SYNGAP1):c.1676+15G>A
NM_006772.3(SYNGAP1):c.1676+19G>A
NM_006772.3(SYNGAP1):c.1676+7C>T
NM_006772.3(SYNGAP1):c.1677-11C>G
NM_006772.3(SYNGAP1):c.1677-12C>T rs975458793
NM_006772.3(SYNGAP1):c.1677-16C>G rs572784864
NM_006772.3(SYNGAP1):c.1677-8C>A
NM_006772.3(SYNGAP1):c.1680G>A (p.Val560=)
NM_006772.3(SYNGAP1):c.1695G>A (p.Leu565=)
NM_006772.3(SYNGAP1):c.1717C>A (p.Arg573=)
NM_006772.3(SYNGAP1):c.1719G>A (p.Arg573=)
NM_006772.3(SYNGAP1):c.1719G>C (p.Arg573=)
NM_006772.3(SYNGAP1):c.1725C>T (p.Arg575=)
NM_006772.3(SYNGAP1):c.1740C>G (p.Gly580=)
NM_006772.3(SYNGAP1):c.1743G>A (p.Arg581=)
NM_006772.3(SYNGAP1):c.175C>T (p.Leu59=)
NM_006772.3(SYNGAP1):c.1768A>G (p.Ser590Gly)
NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys)
NM_006772.3(SYNGAP1):c.1787G>A (p.Arg596His)
NM_006772.3(SYNGAP1):c.1788C>T (p.Arg596=)
NM_006772.3(SYNGAP1):c.1803G>T (p.Ala601=)
NM_006772.3(SYNGAP1):c.1821C>T (p.Leu607=) rs2151180907
NM_006772.3(SYNGAP1):c.1887C>T (p.Val629=) rs2151181047
NM_006772.3(SYNGAP1):c.189+14G>C
NM_006772.3(SYNGAP1):c.189+15_189+16delinsGC rs2151129837
NM_006772.3(SYNGAP1):c.189+18G>C
NM_006772.3(SYNGAP1):c.189+8_189+9del
NM_006772.3(SYNGAP1):c.190-12C>G
NM_006772.3(SYNGAP1):c.190-14C>T
NM_006772.3(SYNGAP1):c.190-16C>T rs2151134381
NM_006772.3(SYNGAP1):c.1913+17G>T rs2151181173
NM_006772.3(SYNGAP1):c.1914-14G>C
NM_006772.3(SYNGAP1):c.1914-15T>G
NM_006772.3(SYNGAP1):c.1914-9C>A rs1761033033
NM_006772.3(SYNGAP1):c.1941C>T (p.Gly647=)
NM_006772.3(SYNGAP1):c.1957C>T (p.Leu653=)
NM_006772.3(SYNGAP1):c.195C>T (p.His65=)
NM_006772.3(SYNGAP1):c.198C>A (p.Pro66=)
NM_006772.3(SYNGAP1):c.198C>G (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.1997A>G (p.Glu666Gly) rs1761035011
NM_006772.3(SYNGAP1):c.199C>T (p.Leu67=)
NM_006772.3(SYNGAP1):c.2007T>C (p.Asn669=)
NM_006772.3(SYNGAP1):c.201A>G (p.Leu67=)
NM_006772.3(SYNGAP1):c.2037T>C (p.Phe679=)
NM_006772.3(SYNGAP1):c.2040G>A (p.Glu680=)
NM_006772.3(SYNGAP1):c.2052C>T (p.Asp684=) rs750115310
NM_006772.3(SYNGAP1):c.2060G>A (p.Arg687Gln)
NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=) rs1554121850
NM_006772.3(SYNGAP1):c.2076G>C (p.Leu692=)
NM_006772.3(SYNGAP1):c.2085A>C (p.Leu695=) rs1581993006
NM_006772.3(SYNGAP1):c.2085A>G (p.Leu695=)
NM_006772.3(SYNGAP1):c.2085A>T (p.Leu695=)
NM_006772.3(SYNGAP1):c.2089T>C (p.Trp697Arg) rs1581993016
NM_006772.3(SYNGAP1):c.2098C>T (p.Leu700=)
NM_006772.3(SYNGAP1):c.2103C>G (p.Pro701=)
NM_006772.3(SYNGAP1):c.2115+17T>C rs2151182839
NM_006772.3(SYNGAP1):c.2116-13C>T
NM_006772.3(SYNGAP1):c.2116-4C>T rs925997309
NM_006772.3(SYNGAP1):c.2116-8C>T rs1442597772
NM_006772.3(SYNGAP1):c.2121C>T (p.Ala707=)
NM_006772.3(SYNGAP1):c.2145C>G (p.Pro715=)
NM_006772.3(SYNGAP1):c.2151C>T (p.Leu717=)
NM_006772.3(SYNGAP1):c.2158G>A (p.Asp720Asn)
NM_006772.3(SYNGAP1):c.2160C>T (p.Asp720=)
NM_006772.3(SYNGAP1):c.2178_2179delinsTT (p.Arg726_Asn727delinsSerTyr)
NM_006772.3(SYNGAP1):c.2184C>A (p.Pro728=)
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.2223C>T (p.Pro741=) rs765916822
NM_006772.3(SYNGAP1):c.2226G>T (p.Arg742=)
NM_006772.3(SYNGAP1):c.2238G>A (p.Val746=)
NM_006772.3(SYNGAP1):c.2245C>T (p.Arg749Trp)
NM_006772.3(SYNGAP1):c.2246G>A (p.Arg749Gln) rs1581993638
NM_006772.3(SYNGAP1):c.2268G>A (p.Gln756=)
NM_006772.3(SYNGAP1):c.2283G>A (p.Arg761=) rs2151184114
NM_006772.3(SYNGAP1):c.2294+12G>C
NM_006772.3(SYNGAP1):c.2294+13G>A rs1761051511
NM_006772.3(SYNGAP1):c.2294+14G>A rs2151184207
NM_006772.3(SYNGAP1):c.2294+9C>T
NM_006772.3(SYNGAP1):c.2295-11TC[3]
NM_006772.3(SYNGAP1):c.2295-11TC[5] rs2151186064
NM_006772.3(SYNGAP1):c.2295-13C>T
NM_006772.3(SYNGAP1):c.2295-17T>C rs1259934375
NM_006772.3(SYNGAP1):c.2295-19T>C
NM_006772.3(SYNGAP1):c.2295-20C>G
NM_006772.3(SYNGAP1):c.2295-20C>T
NM_006772.3(SYNGAP1):c.2307T>C (p.Leu769=)
NM_006772.3(SYNGAP1):c.2328C>A (p.Gly776=)
NM_006772.3(SYNGAP1):c.2336+7G>A
NM_006772.3(SYNGAP1):c.2336+9C>T
NM_006772.3(SYNGAP1):c.2337-20G>A
NM_006772.3(SYNGAP1):c.2337-7C>T
NM_006772.3(SYNGAP1):c.2337-9_2337-3del
NM_006772.3(SYNGAP1):c.2359C>A (p.Pro787Thr) rs765388278
NM_006772.3(SYNGAP1):c.2370C>G (p.Thr790=)
NM_006772.3(SYNGAP1):c.2385C>T (p.Pro795=)
NM_006772.3(SYNGAP1):c.2388A>T (p.Pro796=)
NM_006772.3(SYNGAP1):c.2394G>T (p.Pro798=)
NM_006772.3(SYNGAP1):c.2400T>C (p.Gly800=)
NM_006772.3(SYNGAP1):c.2415G>T (p.Leu805=) rs1298837548
NM_006772.3(SYNGAP1):c.2421T>C (p.Tyr807=)
NM_006772.3(SYNGAP1):c.2439G>A (p.Leu813=)
NM_006772.3(SYNGAP1):c.2444G>A (p.Arg815His) rs372737279
NM_006772.3(SYNGAP1):c.2457A>G (p.Ala819=) rs1000081481
NM_006772.3(SYNGAP1):c.2472C>T (p.Ser824=)
NM_006772.3(SYNGAP1):c.2475G>A (p.Ser825=)
NM_006772.3(SYNGAP1):c.2478C>T (p.Asp826=) rs754494467
NM_006772.3(SYNGAP1):c.2523G>A (p.Val841=)
NM_006772.3(SYNGAP1):c.2550G>A (p.Gly850=)
NM_006772.3(SYNGAP1):c.2562C>T (p.Arg854=) rs1031143430
NM_006772.3(SYNGAP1):c.2571C>T (p.Ser857=)
NM_006772.3(SYNGAP1):c.2583G>C (p.Ser861=)
NM_006772.3(SYNGAP1):c.2635_2636delinsAA (p.Ala879Lys) rs1561789088
NM_006772.3(SYNGAP1):c.2647C>T (p.Leu883=)
NM_006772.3(SYNGAP1):c.2650C>A (p.Arg884=)
NM_006772.3(SYNGAP1):c.2667A>C (p.Gly889=)
NM_006772.3(SYNGAP1):c.2670C>T (p.Arg890=)
NM_006772.3(SYNGAP1):c.2694C>T (p.Ser898=) rs2151188732
NM_006772.3(SYNGAP1):c.2700G>C (p.Thr900=) rs757132718
NM_006772.3(SYNGAP1):c.2719A>T (p.Ser907Cys) rs2151188832
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.2730T>A (p.Gly910=) rs2151188851
NM_006772.3(SYNGAP1):c.2733C>T (p.Val911=) rs1581996050
NM_006772.3(SYNGAP1):c.2736C>G (p.Thr912=)
NM_006772.3(SYNGAP1):c.273G>A (p.Glu91=)
NM_006772.3(SYNGAP1):c.2763G>T (p.Leu921=)
NM_006772.3(SYNGAP1):c.2769C>A (p.Ile923=)
NM_006772.3(SYNGAP1):c.277C>A (p.Arg93=)
NM_006772.3(SYNGAP1):c.2787C>T (p.Asn929=)
NM_006772.3(SYNGAP1):c.2804CTG[1] (p.Ala936del) rs1561789303
NM_006772.3(SYNGAP1):c.2823C>T (p.Pro941=)
NM_006772.3(SYNGAP1):c.2856C>G (p.Gly952=) rs535906467
NM_006772.3(SYNGAP1):c.2856C>T (p.Gly952=) rs535906467
NM_006772.3(SYNGAP1):c.2860C>T (p.Pro954Ser) rs1761103918
NM_006772.3(SYNGAP1):c.2868C>T (p.Ser956=) rs2151189242
NM_006772.3(SYNGAP1):c.2874CCA[2] (p.His964_His966del) rs762369615
NM_006772.3(SYNGAP1):c.2874CCA[4] (p.His966del) rs762369615
NM_006772.3(SYNGAP1):c.2874CCA[6] (p.His966dup) rs762369615
NM_006772.3(SYNGAP1):c.2886C>T (p.His962=)
NM_006772.3(SYNGAP1):c.2889T>C (p.His963=) rs1581996306
NM_006772.3(SYNGAP1):c.2948G>A (p.Ser983Asn) rs1554122267
NM_006772.3(SYNGAP1):c.295+19C>A
NM_006772.3(SYNGAP1):c.295+7C>T
NM_006772.3(SYNGAP1):c.2955T>C (p.Ser985=) rs1240404975
NM_006772.3(SYNGAP1):c.296-11C>G
NM_006772.3(SYNGAP1):c.296-17C>T
NM_006772.3(SYNGAP1):c.296-4C>T rs909586569
NM_006772.3(SYNGAP1):c.296-6C>T rs2151151755
NM_006772.3(SYNGAP1):c.2976C>G (p.Val992=)
NM_006772.3(SYNGAP1):c.2979C>T (p.Pro993=) rs2151189594
NM_006772.3(SYNGAP1):c.2991T>C (p.Ala997=)
NM_006772.3(SYNGAP1):c.3057T>G (p.Arg1019=)
NM_006772.3(SYNGAP1):c.3075G>A (p.Gln1025=) rs1269883967
NM_006772.3(SYNGAP1):c.3090C>T (p.His1030=)
NM_006772.3(SYNGAP1):c.3111C>T (p.Ile1037=)
NM_006772.3(SYNGAP1):c.3121C>T (p.Pro1041Ser) rs1561789701
NM_006772.3(SYNGAP1):c.3123C>A (p.Pro1041=)
NM_006772.3(SYNGAP1):c.3132A>T (p.Pro1044=)
NM_006772.3(SYNGAP1):c.3135C>T (p.Ala1045=) rs1242622464
NM_006772.3(SYNGAP1):c.3156_3167del (p.1053SGGG[1]) rs1321244643
NM_006772.3(SYNGAP1):c.3159C>T (p.Ser1053=)
NM_006772.3(SYNGAP1):c.315G>C (p.Ser105=)
NM_006772.3(SYNGAP1):c.315G>T (p.Ser105=) rs757448236
NM_006772.3(SYNGAP1):c.3168_3179del (p.1053_1056SGGG[1]) rs774101585
NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=) rs759449351
NM_006772.3(SYNGAP1):c.3194C>T (p.Pro1065Leu) rs1014180310
NM_006772.3(SYNGAP1):c.3202T>C (p.Leu1068=)
NM_006772.3(SYNGAP1):c.3226T>C (p.Leu1076=) rs756330466
NM_006772.3(SYNGAP1):c.3231A>G (p.Thr1077=)
NM_006772.3(SYNGAP1):c.3255G>A (p.Arg1085=) rs769113190
NM_006772.3(SYNGAP1):c.3294T>C (p.Ser1098=) rs2151190779
NM_006772.3(SYNGAP1):c.3300C>T (p.Gly1100=)
NM_006772.3(SYNGAP1):c.3306C>G (p.Ala1102=) rs1761119422
NM_006772.3(SYNGAP1):c.3309T>G (p.Arg1103=)
NM_006772.3(SYNGAP1):c.3312A>C (p.Pro1104=)
NM_006772.3(SYNGAP1):c.3328A>G (p.Ser1110Gly)
NM_006772.3(SYNGAP1):c.333A>G (p.Pro111=) rs2151151896
NM_006772.3(SYNGAP1):c.3343_3354del (p.Ile1115_Ser1118del) rs1761120740
NM_006772.3(SYNGAP1):c.3343_3363del (p.Ile1115_Ser1121del) rs2151190971
NM_006772.3(SYNGAP1):c.3348G>A (p.Gly1116=)
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3351C>T (p.Gly1117=)
NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=) rs1478769596
NM_006772.3(SYNGAP1):c.3384G>T (p.Gly1128=)
NM_006772.3(SYNGAP1):c.3395C>A (p.Ser1132Tyr) rs1761123592
NM_006772.3(SYNGAP1):c.339G>A (p.Gly113=) rs1163363015
NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=) rs749949430
NM_006772.3(SYNGAP1):c.3405G>A (p.Lys1135=)
NM_006772.3(SYNGAP1):c.3408+7G>A
NM_006772.3(SYNGAP1):c.3409-7G>A
NM_006772.3(SYNGAP1):c.3423A>C (p.Pro1141=)
NM_006772.3(SYNGAP1):c.3424T>C (p.Ser1142Pro)
NM_006772.3(SYNGAP1):c.3450C>T (p.Ala1150=)
NM_006772.3(SYNGAP1):c.3456G>A (p.Glu1152=) rs2151192927
NM_006772.3(SYNGAP1):c.3480C>T (p.Asn1160=)
NM_006772.3(SYNGAP1):c.3528A>G (p.Glu1176=)
NM_006772.3(SYNGAP1):c.3555A>G (p.Lys1185=)
NM_006772.3(SYNGAP1):c.3567G>C (p.Glu1189Asp) rs1761142201
NM_006772.3(SYNGAP1):c.3582+11C>A
NM_006772.3(SYNGAP1):c.3582+11C>T rs2151193305
NM_006772.3(SYNGAP1):c.3582+12T>C
NM_006772.3(SYNGAP1):c.3582+13C>T
NM_006772.3(SYNGAP1):c.3582+7T>G rs370618729
NM_006772.3(SYNGAP1):c.3583-10C>T
NM_006772.3(SYNGAP1):c.3583-12C>T
NM_006772.3(SYNGAP1):c.3583-20G>T
NM_006772.3(SYNGAP1):c.360T>G (p.Gly120=)
NM_006772.3(SYNGAP1):c.3648G>C (p.Leu1216=) rs1400502496
NM_006772.3(SYNGAP1):c.3660G>A (p.Glu1220=) rs2151199457
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.3667C>T (p.Leu1223=)
NM_006772.3(SYNGAP1):c.3681A>G (p.Glu1227=) rs2151199514
NM_006772.3(SYNGAP1):c.3690C>A (p.Thr1230=) rs2151199552
NM_006772.3(SYNGAP1):c.36C>T (p.Ser12=) rs1362587238
NM_006772.3(SYNGAP1):c.3714G>A (p.Gln1238=) rs1350317629
NM_006772.3(SYNGAP1):c.3723G>A (p.Leu1241=) rs2151199602
NM_006772.3(SYNGAP1):c.3726G>A (p.Glu1242=)
NM_006772.3(SYNGAP1):c.3738G>A (p.Lys1246=)
NM_006772.3(SYNGAP1):c.3756G>A (p.Gln1252=)
NM_006772.3(SYNGAP1):c.3771C>A (p.Ser1257=) rs1207365456
NM_006772.3(SYNGAP1):c.3794+19dup rs1454267782
NM_006772.3(SYNGAP1):c.3794+7G>A
NM_006772.3(SYNGAP1):c.3795-10G>C
NM_006772.3(SYNGAP1):c.3795-7C>G rs1761241320
NM_006772.3(SYNGAP1):c.3802C>T (p.Leu1268=)
NM_006772.3(SYNGAP1):c.3817C>T (p.Leu1273=)
NM_006772.3(SYNGAP1):c.381G>A (p.Arg127=)
NM_006772.3(SYNGAP1):c.3821G>A (p.Arg1274His)
NM_006772.3(SYNGAP1):c.3864G>A (p.Lys1288=)
NM_006772.3(SYNGAP1):c.387+12C>T
NM_006772.3(SYNGAP1):c.387+14del
NM_006772.3(SYNGAP1):c.387+8G>T rs1479546732
NM_006772.3(SYNGAP1):c.3871C>T (p.Leu1291=) rs2151202605
NM_006772.3(SYNGAP1):c.3876C>T (p.Leu1292=)
NM_006772.3(SYNGAP1):c.3879C>T (p.Asp1293=) rs1340445648
NM_006772.3(SYNGAP1):c.388-11T>G
NM_006772.3(SYNGAP1):c.388-13A>G
NM_006772.3(SYNGAP1):c.388-18T>A
NM_006772.3(SYNGAP1):c.388-3dup rs771107621
NM_006772.3(SYNGAP1):c.3885+8T>C
NM_006772.3(SYNGAP1):c.3886-7C>G
NM_006772.3(SYNGAP1):c.3903C>A (p.Pro1301=)
NM_006772.3(SYNGAP1):c.3930G>A (p.Thr1310=) rs865783045
NM_006772.3(SYNGAP1):c.3931C>T (p.Leu1311=)
NM_006772.3(SYNGAP1):c.3932T>C (p.Leu1311Pro) rs1761347213
NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=) rs774453156
NM_006772.3(SYNGAP1):c.3941C>T (p.Pro1314Leu) rs1369846705
NM_006772.3(SYNGAP1):c.3957C>A (p.Ala1319=) rs773538561
NM_006772.3(SYNGAP1):c.3957C>G (p.Ala1319=) rs773538561
NM_006772.3(SYNGAP1):c.3957C>T (p.Ala1319=)
NM_006772.3(SYNGAP1):c.3962dup (p.Ala1322fs)
NM_006772.3(SYNGAP1):c.3963A>C (p.Pro1321=) rs764754365
NM_006772.3(SYNGAP1):c.3963A>G (p.Pro1321=) rs764754365
NM_006772.3(SYNGAP1):c.3966C>T (p.Ala1322=)
NM_006772.3(SYNGAP1):c.3969A>C (p.Pro1323=) rs764031180
NM_006772.3(SYNGAP1):c.3970C>T (p.Pro1324Ser) rs2151214061
NM_006772.3(SYNGAP1):c.3972A>C (p.Pro1324=) rs751387116
NM_006772.3(SYNGAP1):c.3978A>C (p.Pro1326=) rs745764103
NM_006772.3(SYNGAP1):c.3996G>A (p.Thr1332=)
NM_006772.3(SYNGAP1):c.3996G>T (p.Thr1332=)
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) rs1292609217
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser) rs1761351808
NM_006772.3(SYNGAP1):c.4005C>T (p.Gly1335=) rs1561794001
NM_006772.3(SYNGAP1):c.4008G>A (p.Glu1336=)
NM_006772.3(SYNGAP1):c.4020C>T (p.Thr1340=)
NM_006772.3(SYNGAP1):c.4023A>G (p.Ala1341=)
NM_006772.3(SYNGAP1):c.411A>T (p.Leu137=)
NM_006772.3(SYNGAP1):c.42C>T (p.Pro14=)
NM_006772.3(SYNGAP1):c.444C>T (p.Pro148=)
NM_006772.3(SYNGAP1):c.45G>A (p.Ala15=) rs1554304262
NM_006772.3(SYNGAP1):c.45G>C (p.Ala15=)
NM_006772.3(SYNGAP1):c.478C>T (p.Leu160=)
NM_006772.3(SYNGAP1):c.509+14A>G rs1039730054
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191
NM_006772.3(SYNGAP1):c.509+7G>T
NM_006772.3(SYNGAP1):c.510-5G>A rs1581983723
NM_006772.3(SYNGAP1):c.514C>A (p.Arg172=)
NM_006772.3(SYNGAP1):c.519G>A (p.Leu173=) rs746494569
NM_006772.3(SYNGAP1):c.51C>T (p.Ser17=) rs1776745615
NM_006772.3(SYNGAP1):c.537G>A (p.Glu179=) rs1209774912
NM_006772.3(SYNGAP1):c.555C>T (p.Ser185=) rs1581983817
NM_006772.3(SYNGAP1):c.556T>C (p.Leu186=) rs2151161145
NM_006772.3(SYNGAP1):c.573T>C (p.Ser191=) rs1581983832
NM_006772.3(SYNGAP1):c.57C>T (p.Ala19=) rs1411216735
NM_006772.3(SYNGAP1):c.585A>G (p.Ala195=) rs2151161190
NM_006772.3(SYNGAP1):c.598T>C (p.Leu200=)
NM_006772.3(SYNGAP1):c.630C>T (p.His210=) rs2151161279
NM_006772.3(SYNGAP1):c.645C>G (p.Gly215=) rs2151161285
NM_006772.3(SYNGAP1):c.654C>T (p.Phe218=) rs542048435
NM_006772.3(SYNGAP1):c.660T>C (p.Phe220=)
NM_006772.3(SYNGAP1):c.663+10C>G
NM_006772.3(SYNGAP1):c.663+19T>C
NM_006772.3(SYNGAP1):c.663+8G>C
NM_006772.3(SYNGAP1):c.664-12A>G
NM_006772.3(SYNGAP1):c.664-14_664-11del
NM_006772.3(SYNGAP1):c.664-4C>T
NM_006772.3(SYNGAP1):c.664-5T>C rs759615054
NM_006772.3(SYNGAP1):c.67+10G>A
NM_006772.3(SYNGAP1):c.67+13G>A
NM_006772.3(SYNGAP1):c.67+15G>A
NM_006772.3(SYNGAP1):c.67+15del rs753367470
NM_006772.3(SYNGAP1):c.67+16A>T rs1581965137
NM_006772.3(SYNGAP1):c.67+9T>G rs1189746637
NM_006772.3(SYNGAP1):c.67+9dup
NM_006772.3(SYNGAP1):c.68-15G>A
NM_006772.3(SYNGAP1):c.68-19G>T rs373214421
NM_006772.3(SYNGAP1):c.684A>T (p.Thr228=) rs2151161890
NM_006772.3(SYNGAP1):c.690C>T (p.Cys230=)
NM_006772.3(SYNGAP1):c.702G>A (p.Arg234=)
NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=) rs745547755
NM_006772.3(SYNGAP1):c.708G>T (p.Ala236=) rs745547755
NM_006772.3(SYNGAP1):c.711C>T (p.Ala237=)
NM_006772.3(SYNGAP1):c.729T>A (p.Ile243=)
NM_006772.3(SYNGAP1):c.747A>C (p.Ala249=)
NM_006772.3(SYNGAP1):c.75G>T (p.Arg25=) rs1776860145
NM_006772.3(SYNGAP1):c.762+12T>A
NM_006772.3(SYNGAP1):c.762+18G>A
NM_006772.3(SYNGAP1):c.763-5G>C
NM_006772.3(SYNGAP1):c.763-7A>T
NM_006772.3(SYNGAP1):c.763-8C>T rs2151168250
NM_006772.3(SYNGAP1):c.765C>T (p.Asp255=)
NM_006772.3(SYNGAP1):c.780A>T (p.Val260=) rs2151168292
NM_006772.3(SYNGAP1):c.790C>T (p.Leu264=) rs2151168337
NM_006772.3(SYNGAP1):c.804C>T (p.Ile268=)
NM_006772.3(SYNGAP1):c.816G>A (p.Arg272=) rs1581986949
NM_006772.3(SYNGAP1):c.819G>A (p.Glu273=)
NM_006772.3(SYNGAP1):c.828C>T (p.Pro276=)
NM_006772.3(SYNGAP1):c.846T>C (p.Cys282=)
NM_006772.3(SYNGAP1):c.882C>T (p.Thr294=)
NM_006772.3(SYNGAP1):c.897C>T (p.Arg299=)
NM_006772.3(SYNGAP1):c.930G>A (p.Glu310=) rs1760890843
NM_006772.3(SYNGAP1):c.936C>T (p.Phe312=)
NM_006772.3(SYNGAP1):c.937G>A (p.Glu313Lys)
NM_006772.3(SYNGAP1):c.948C>T (p.Asn316=)
NM_006772.3(SYNGAP1):c.961C>T (p.Arg321Cys)

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