ClinVar Miner

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

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Total variants: 147
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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.3582+7T>C rs370618729 0.00193
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.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.1136C>T (p.Ser379Leu) rs371883908 0.00027
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.3364G>A (p.Gly1122Ser) rs755386745 0.00008
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.3583-7C>T rs748161838 0.00006
NM_006772.3(SYNGAP1):c.4021G>A (p.Ala1341Thr) rs771224281 0.00006
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.1198G>C (p.Val400Leu) rs201020155 0.00004
NM_006772.3(SYNGAP1):c.1604G>C (p.Ser535Thr) rs750770222 0.00004
NM_006772.3(SYNGAP1):c.2111G>A (p.Ser704Asn) rs775884756 0.00004
NM_006772.3(SYNGAP1):c.2409A>G (p.Lys803=) rs770750501 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.2381C>T (p.Pro794Leu) rs375837477 0.00003
NM_006772.3(SYNGAP1):c.2695A>G (p.Ile899Val) rs143862418 0.00003
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met) rs751157497 0.00003
NM_006772.3(SYNGAP1):c.3355G>A (p.Gly1119Arg) rs927915520 0.00003
NM_006772.3(SYNGAP1):c.3858A>T (p.Glu1286Asp) rs139853969 0.00003
NM_006772.3(SYNGAP1):c.2743G>A (p.Gly915Ser) rs773316877 0.00002
NM_006772.3(SYNGAP1):c.2830G>A (p.Gly944Ser) rs765718674 0.00002
NM_006772.3(SYNGAP1):c.2900G>A (p.Arg967Gln) rs557096495 0.00002
NM_006772.3(SYNGAP1):c.3160G>A (p.Gly1054Ser) rs774066129 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.3397A>G (p.Ile1133Val) rs746524469 0.00002
NM_006772.3(SYNGAP1):c.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_006772.3(SYNGAP1):c.407G>A (p.Arg136Gln) rs759426721 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.1312G>A (p.Ala438Thr) rs765011916 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.2157C>T (p.Asn719=) rs559061651 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_006772.3(SYNGAP1):c.2668C>T (p.Arg890Cys) rs1761097804 0.00001
NM_006772.3(SYNGAP1):c.2703G>A (p.Ala901=) rs769826724 0.00001
NM_006772.3(SYNGAP1):c.2760A>G (p.Gln920=) rs1466615976 0.00001
NM_006772.3(SYNGAP1):c.280C>T (p.Pro94Ser) rs773668772 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr) rs756181133 0.00001
NM_006772.3(SYNGAP1):c.3179G>T (p.Gly1060Val) rs1422793438 0.00001
NM_006772.3(SYNGAP1):c.3308G>A (p.Arg1103His) rs764952741 0.00001
NM_006772.3(SYNGAP1):c.3370G>A (p.Gly1124Arg) rs748702892 0.00001
NM_006772.3(SYNGAP1):c.3582+4C>T rs376752755 0.00001
NM_006772.3(SYNGAP1):c.3582+6A>C rs768094841 0.00001
NM_006772.3(SYNGAP1):c.3662G>A (p.Arg1221Gln) rs906055922 0.00001
NM_006772.3(SYNGAP1):c.3848C>T (p.Pro1283Leu) rs1396355432 0.00001
NM_006772.3(SYNGAP1):c.4006G>A (p.Glu1336Lys) rs1226494061 0.00001
NM_006772.3(SYNGAP1):c.603T>G (p.Asp201Glu) rs768682743 0.00001
NM_006772.3(SYNGAP1):c.76G>A (p.Gly26Arg) rs1554304652 0.00001
NM_006772.3(SYNGAP1):c.895C>T (p.Arg299Cys) rs1760889495 0.00001
NM_006772.3(SYNGAP1):c.913A>G (p.Thr305Ala) rs1226093664 0.00001
NM_006772.3(SYNGAP1):c.1195G>A (p.Ala399Thr)
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
NM_006772.3(SYNGAP1):c.1326A>G (p.Lys442=) rs2151170276
NM_006772.3(SYNGAP1):c.1594A>C (p.Thr532Pro) rs2151172479
NM_006772.3(SYNGAP1):c.1677-16C>T rs572784864
NM_006772.3(SYNGAP1):c.1677-3del rs1381203371
NM_006772.3(SYNGAP1):c.1677-3dup rs1381203371
NM_006772.3(SYNGAP1):c.1729G>A (p.Ala577Thr)
NM_006772.3(SYNGAP1):c.1742G>A (p.Arg581Gln) rs1761010170
NM_006772.3(SYNGAP1):c.190-12del rs2151134386
NM_006772.3(SYNGAP1):c.1913+45_1913+59del rs572578854
NM_006772.3(SYNGAP1):c.1918A>T (p.Thr640Ser)
NM_006772.3(SYNGAP1):c.196C>T (p.Pro66Ser)
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2014A>G (p.Thr672Ala)
NM_006772.3(SYNGAP1):c.2029A>T (p.Ser677Cys)
NM_006772.3(SYNGAP1):c.2116-3C>T rs2151183616
NM_006772.3(SYNGAP1):c.2214T>G (p.Ser738Arg) rs1243545018
NM_006772.3(SYNGAP1):c.223G>A (p.Glu75Lys)
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg) rs886868218
NM_006772.3(SYNGAP1):c.2291A>G (p.Asn764Ser)
NM_006772.3(SYNGAP1):c.2294+3G>A
NM_006772.3(SYNGAP1):c.2324G>C (p.Arg775Pro)
NM_006772.3(SYNGAP1):c.2343G>A (p.Met781Ile)
NM_006772.3(SYNGAP1):c.2349G>A (p.Met783Ile)
NM_006772.3(SYNGAP1):c.2350G>A (p.Ala784Thr) rs768267846
NM_006772.3(SYNGAP1):c.2443C>A (p.Arg815Ser)
NM_006772.3(SYNGAP1):c.2503C>A (p.Leu835Met)
NM_006772.3(SYNGAP1):c.2578G>A (p.Val860Ile) rs1060503387
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2669G>A (p.Arg890His) rs369681579
NM_006772.3(SYNGAP1):c.2765G>A (p.Arg922Gln)
NM_006772.3(SYNGAP1):c.2818G>C (p.Gly940Arg)
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
NM_006772.3(SYNGAP1):c.2873A>C (p.His958Pro) rs1465908298
NM_006772.3(SYNGAP1):c.2909A>G (p.Glu970Gly)
NM_006772.3(SYNGAP1):c.2971G>A (p.Gly991Arg) rs145472959
NM_006772.3(SYNGAP1):c.2987C>G (p.Pro996Arg)
NM_006772.3(SYNGAP1):c.3020G>A (p.Ser1007Asn)
NM_006772.3(SYNGAP1):c.3049T>C (p.Phe1017Leu)
NM_006772.3(SYNGAP1):c.3100C>G (p.Pro1034Ala)
NM_006772.3(SYNGAP1):c.311G>T (p.Arg104Leu)
NM_006772.3(SYNGAP1):c.3152G>A (p.Gly1051Asp)
NM_006772.3(SYNGAP1):c.3184G>A (p.Gly1062Arg)
NM_006772.3(SYNGAP1):c.3209G>A (p.Arg1070Lys) rs1561789828
NM_006772.3(SYNGAP1):c.3237C>G (p.Ser1079Arg) rs149779350
NM_006772.3(SYNGAP1):c.3290C>T (p.Pro1097Leu)
NM_006772.3(SYNGAP1):c.3293G>A (p.Ser1098Asn) rs1761118961
NM_006772.3(SYNGAP1):c.3305C>T (p.Ala1102Val)
NM_006772.3(SYNGAP1):c.3310C>T (p.Pro1104Ser)
NM_006772.3(SYNGAP1):c.3326T>C (p.Leu1109Pro)
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro) rs2151191235
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr) rs2151191254
NM_006772.3(SYNGAP1):c.3408+3A>G
NM_006772.3(SYNGAP1):c.3410A>C (p.His1137Pro)
NM_006772.3(SYNGAP1):c.3583-17G>A rs768465867
NM_006772.3(SYNGAP1):c.3631A>G (p.Met1211Val)
NM_006772.3(SYNGAP1):c.3638A>C (p.Asn1213Thr) rs761582251
NM_006772.3(SYNGAP1):c.3638A>G (p.Asn1213Ser) rs761582251
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) rs1374327029
NM_006772.3(SYNGAP1):c.3920C>T (p.Pro1307Leu)
NM_006772.3(SYNGAP1):c.3929C>T (p.Thr1310Met)
NM_006772.3(SYNGAP1):c.3949G>A (p.Gly1317Ser)
NM_006772.3(SYNGAP1):c.3962C>A (p.Pro1321Gln) rs1761348954
NM_006772.3(SYNGAP1):c.3964G>C (p.Ala1322Pro) rs752321873
NM_006772.3(SYNGAP1):c.502C>T (p.His168Tyr) rs1777198561
NM_006772.3(SYNGAP1):c.603T>A (p.Asp201Glu)
NM_006772.3(SYNGAP1):c.667A>T (p.Thr223Ser) rs1435943982
NM_006772.3(SYNGAP1):c.694G>A (p.Ala232Thr) rs756789403
NM_006772.3(SYNGAP1):c.707C>T (p.Ala236Val) rs1166557922
NM_006772.3(SYNGAP1):c.819G>T (p.Glu273Asp) rs1256016634
NM_006772.3(SYNGAP1):c.865A>G (p.Met289Val)
NM_006772.3(SYNGAP1):c.892C>T (p.Pro298Ser)
NM_006772.3(SYNGAP1):c.927C>T (p.Gly309=)

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