ClinVar Miner

List of variants in gene SYNGAP1 reported by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 98
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HGVS dbSNP gnomAD frequency
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.1491T>C (p.Tyr497=) rs72887798 0.00417
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.1776A>G (p.Ser592=) rs150153477 0.00082
NM_006772.3(SYNGAP1):c.586T>C (p.Leu196=) rs145694123 0.00071
NM_006772.3(SYNGAP1):c.3324C>T (p.Ser1108=) rs139841529 0.00059
NM_006772.3(SYNGAP1):c.2658G>A (p.Ala886=) rs149467343 0.00024
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.1158G>A (p.Gly386=) rs1443802147 0.00010
NM_006772.3(SYNGAP1):c.1812G>A (p.Ser604=) rs149727287 0.00009
NM_006772.3(SYNGAP1):c.228C>T (p.Ser76=) rs147049139 0.00007
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.2394G>A (p.Pro798=) rs138404495 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.773G>A (p.Arg258His) rs538281267 0.00004
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) rs552867155 0.00003
NM_006772.3(SYNGAP1):c.33G>T (p.Gly11=) rs749949430 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.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=) rs1385235040 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.1962G>A (p.Glu654=) rs373857862 0.00001
NM_006772.3(SYNGAP1):c.2157C>T (p.Asn719=) rs559061651 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.2943C>T (p.Gly981=) rs202074092 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.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.895C>T (p.Arg299Cys) rs1760889495 0.00001
NM_006772.3(SYNGAP1):c.1144G>T (p.Gly382Ter) rs1760897843
NM_006772.3(SYNGAP1):c.1154C>T (p.Ser385Leu) rs766006911
NM_006772.3(SYNGAP1):c.1161T>G (p.Gly387=)
NM_006772.3(SYNGAP1):c.1194G>A (p.Pro398=)
NM_006772.3(SYNGAP1):c.1199T>A (p.Val400Glu) rs1581987752
NM_006772.3(SYNGAP1):c.1243G>T (p.Glu415Ter) rs1554121273
NM_006772.3(SYNGAP1):c.1303_1304dup (p.Leu435fs) rs1760906699
NM_006772.3(SYNGAP1):c.1423C>T (p.Arg475Trp) rs1760915141
NM_006772.3(SYNGAP1):c.14_27dup (p.Arg10fs)
NM_006772.3(SYNGAP1):c.1505G>A (p.Gly502Asp) rs1554121354
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.1641_1642del (p.Cys547_Glu548delinsTer) rs2151172644
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1718G>A (p.Arg573Gln) rs1554121685
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met) rs1405483444
NM_006772.3(SYNGAP1):c.2086C>G (p.Leu696Val)
NM_006772.3(SYNGAP1):c.2115G>C (p.Lys705Asn) rs1057518786
NM_006772.3(SYNGAP1):c.2230C>T (p.Gln744Ter) rs1554121947
NM_006772.3(SYNGAP1):c.2323C>T (p.Arg775Ter) rs1554122080
NM_006772.3(SYNGAP1):c.2362_2366dup (p.Thr790fs) rs1761087122
NM_006772.3(SYNGAP1):c.2443C>G (p.Arg815Gly) rs1216243827
NM_006772.3(SYNGAP1):c.2525C>A (p.Ser842Tyr) rs1561788965
NM_006772.3(SYNGAP1):c.263T>C (p.Val88Ala)
NM_006772.3(SYNGAP1):c.266C>T (p.Pro89Leu) rs1554119830
NM_006772.3(SYNGAP1):c.2755C>T (p.Gln919Ter) rs1554122242
NM_006772.3(SYNGAP1):c.2852_2857del (p.His951_Gly952del)
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.2928T>G (p.Phe976Leu) rs1561789482
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg) rs145472959
NM_006772.3(SYNGAP1):c.2979dup (p.Lys994fs) rs1554122276
NM_006772.3(SYNGAP1):c.3041G>T (p.Gly1014Val) rs1581996568
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.3180T>G (p.Gly1060=)
NM_006772.3(SYNGAP1):c.3183C>G (p.Gly1061=) rs759449351
NM_006772.3(SYNGAP1):c.3354C>A (p.Ser1118Arg)
NM_006772.3(SYNGAP1):c.3594C>G (p.Tyr1198Ter) rs1007979214
NM_006772.3(SYNGAP1):c.3672del (p.Ser1225fs) rs2151199493
NM_006772.3(SYNGAP1):c.3705G>A (p.Met1235Ile)
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) rs1374327029
NM_006772.3(SYNGAP1):c.3936C>T (p.Ala1312=) rs774453156
NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser)
NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs)
NM_006772.3(SYNGAP1):c.3968_3969insCCCCC (p.Pro1325fs)
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter) rs1057518352
NM_006772.3(SYNGAP1):c.663+1G>A rs1064797322
NM_006772.3(SYNGAP1):c.68-1G>A rs1562869207
NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=) rs1325101897
NM_006772.3(SYNGAP1):c.828dup (p.Lys277fs) rs2151168473
NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr) rs1581987146

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