ClinVar Miner

List of variants in gene SYNGAP1 studied for Inborn genetic diseases

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Total variants: 159
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1713G>A (p.Ser571=) rs411136 0.40227
NM_006772.3(SYNGAP1):c.1851G>A (p.Glu617=) rs75579703 0.09434
NM_006772.3(SYNGAP1):c.1536A>G (p.Glu512=) rs7759963 0.07295
NM_006772.3(SYNGAP1):c.2970C>T (p.Ser990=) rs61421477 0.05793
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.1491T>C (p.Tyr497=) rs72887798 0.00417
NM_006772.3(SYNGAP1):c.3273A>G (p.Leu1091=) rs145707539 0.00216
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.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.1935T>C (p.Phe645=) rs145406441 0.00059
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
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.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.1884G>A (p.Lys628=) rs140022772 0.00015
NM_006772.3(SYNGAP1):c.447A>G (p.Lys149=) rs544817923 0.00012
NM_006772.3(SYNGAP1):c.1575G>A (p.Glu525=) rs139050190 0.00011
NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=) rs149727287 0.00009
NM_006772.3(SYNGAP1):c.2242C>T (p.Leu748=) rs377301201 0.00008
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.1532-5C>G rs928381854 0.00006
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.3045T>C (p.Thr1015=) rs753746117 0.00006
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.1137G>A (p.Ser379=) rs1471355033 0.00004
NM_006772.3(SYNGAP1):c.1305G>A (p.Leu435=) rs776326092 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.3354C>T (p.Ser1118=) rs756351837 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.1771G>A (p.Ala591Thr) rs946029100 0.00003
NM_006772.3(SYNGAP1):c.1888A>G (p.Ile630Val) rs192497085 0.00003
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) rs552867155 0.00003
NM_006772.3(SYNGAP1):c.2669G>C (p.Arg890Pro) rs369681579 0.00003
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met) rs751157497 0.00003
NM_006772.3(SYNGAP1):c.3849G>A (p.Pro1283=) rs1014733325 0.00003
NM_006772.3(SYNGAP1):c.1677-4C>G rs538524761 0.00002
NM_006772.3(SYNGAP1):c.2829C>T (p.Gly943=) rs1185150405 0.00002
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln) rs557096495 0.00002
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) rs767071930 0.00002
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) rs777482147 0.00002
NM_006772.3(SYNGAP1):c.372G>A (p.Ala124=) rs748895452 0.00002
NM_006772.3(SYNGAP1):c.1213C>T (p.Arg405Cys) rs751466510 0.00001
NM_006772.3(SYNGAP1):c.163C>A (p.Gln55Lys) rs752176449 0.00001
NM_006772.3(SYNGAP1):c.1723C>T (p.Arg575Cys) rs758101067 0.00001
NM_006772.3(SYNGAP1):c.1973G>A (p.Gly658Asp) rs1196568491 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 0.00001
NM_006772.3(SYNGAP1):c.2195G>A (p.Arg732Lys) rs934177451 0.00001
NM_006772.3(SYNGAP1):c.2218C>T (p.Arg740Trp) rs1761047927 0.00001
NM_006772.3(SYNGAP1):c.2352T>C (p.Ala784=) rs1286625722 0.00001
NM_006772.3(SYNGAP1):c.2460C>T (p.Tyr820=) rs756696815 0.00001
NM_006772.3(SYNGAP1):c.2595C>T (p.Ala865=) rs745742397 0.00001
NM_006772.3(SYNGAP1):c.2844C>T (p.Gly948=) rs753093321 0.00001
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr) rs756181133 0.00001
NM_006772.3(SYNGAP1):c.297A>G (p.Glu99=) rs1038411463 0.00001
NM_006772.3(SYNGAP1):c.3195G>A (p.Pro1065=) rs752562193 0.00001
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg) rs748702892 0.00001
NM_006772.3(SYNGAP1):c.3457C>T (p.Arg1153Trp) rs1554122465 0.00001
NM_006772.3(SYNGAP1):c.3886-5T>C rs1215747659 0.00001
NM_006772.3(SYNGAP1):c.5G>A (p.Ser2Asn) rs767981313 0.00001
NM_006772.3(SYNGAP1):c.680G>A (p.Gly227Glu) rs1025271834 0.00001
NM_006772.3(SYNGAP1):c.896G>A (p.Arg299His) rs1385831038 0.00001
NM_006772.3(SYNGAP1):c.1055C>A (p.Thr352Asn) rs1373454665
NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter)
NM_006772.3(SYNGAP1):c.114G>A (p.Pro38=) rs370803544
NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter) rs1561785045
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) rs2151170078
NM_006772.3(SYNGAP1):c.1386+1G>A
NM_006772.3(SYNGAP1):c.1408A>G (p.Met470Val)
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe) rs1554121340
NM_006772.3(SYNGAP1):c.1480A>G (p.Ile494Val)
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs) rs1554121353
NM_006772.3(SYNGAP1):c.1531G>A (p.Gly511Arg)
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro) rs1480178032
NM_006772.3(SYNGAP1):c.1635G>A (p.Met545Ile)
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1718G>T (p.Arg573Leu) rs1554121685
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys)
NM_006772.3(SYNGAP1):c.1814C>G (p.Pro605Arg) rs1761018819
NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter) rs1554121729
NM_006772.3(SYNGAP1):c.1966G>C (p.Glu656Gln)
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.2200C>T (p.Pro734Ser)
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs) rs1761050922
NM_006772.3(SYNGAP1):c.2294+5G>T
NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His)
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.2478C>T (p.Asp826=) rs754494467
NM_006772.3(SYNGAP1):c.256G>A (p.Val86Ile) rs374819241
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2632A>G (p.Thr878Ala)
NM_006772.3(SYNGAP1):c.2667A>C (p.Gly889=)
NM_006772.3(SYNGAP1):c.2714G>A (p.Arg905His) rs1198976275
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.2735C>A (p.Thr912Asn)
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.2863T>C (p.Ser955Pro)
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) rs1064796547
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
NM_006772.3(SYNGAP1):c.3009C>G (p.Ser1003Arg)
NM_006772.3(SYNGAP1):c.3026A>C (p.Glu1009Ala)
NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys) rs1561789828
NM_006772.3(SYNGAP1):c.3226T>C (p.Leu1076=) rs756330466
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.3254G>A (p.Arg1085Gln)
NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn) rs1761118961
NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro)
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro) rs2151191235
NM_006772.3(SYNGAP1):c.33G>A (p.Gly11=) rs749949430
NM_006772.3(SYNGAP1):c.3408+1G>A rs1554122402
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3449C>T (p.Ala1150Val) rs1561790495
NM_006772.3(SYNGAP1):c.3484C>T (p.Pro1162Ser)
NM_006772.3(SYNGAP1):c.3508A>G (p.Ser1170Gly) rs1561790532
NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr) rs761582251
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs) rs1554122710
NM_006772.3(SYNGAP1):c.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs) rs1761210688
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.3794+2T>C rs1395368098
NM_006772.3(SYNGAP1):c.3794G>C (p.Arg1265Thr) rs1554122763
NM_006772.3(SYNGAP1):c.3806T>A (p.Val1269Glu) rs1554122884
NM_006772.3(SYNGAP1):c.3900C>A (p.Pro1300=) rs1561793756
NM_006772.3(SYNGAP1):c.3903dup (p.Pro1304fs) rs1761346213
NM_006772.3(SYNGAP1):c.3907G>A (p.Gly1303Ser)
NM_006772.3(SYNGAP1):c.3978A>C (p.Pro1326=) rs745764103
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) rs1292609217
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.406C>T (p.Arg136Trp) rs1777195467
NM_006772.3(SYNGAP1):c.431C>T (p.Thr144Met)
NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs) rs1554304258
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) rs998489108
NM_006772.3(SYNGAP1):c.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.510-2A>G rs1554120894
NM_006772.3(SYNGAP1):c.537G>A (p.Glu179=) rs1209774912
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs) rs1554120939
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs) rs1554120966
NM_006772.3(SYNGAP1):c.708G>A (p.Ala236=) rs745547755
NM_006772.3(SYNGAP1):c.74G>A (p.Arg25Gln)
NM_006772.3(SYNGAP1):c.859G>T (p.Asp287Tyr)

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