ClinVar Miner

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

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Gene type:
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1677-129_1677-128del rs567989593 0.00699
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.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.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.33G>T (p.Gly11=) rs749949430 0.00003
NM_006772.3(SYNGAP1):c.4002C>T (p.Asn1334=) rs201509029 0.00003
NM_006772.3(SYNGAP1):c.1146A>G (p.Gly382=) rs1385235040 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.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.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.3780G>A (p.Lys1260=) rs993798547 0.00001
NM_006772.3(SYNGAP1):c.1161T>G (p.Gly387=)
NM_006772.3(SYNGAP1):c.1194G>A (p.Pro398=)
NM_006772.3(SYNGAP1):c.2015C>T (p.Thr672Met) rs1405483444
NM_006772.3(SYNGAP1):c.2852_2857del (p.His951_Gly952del)
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.3936C>T (p.Ala1312=) rs774453156
NM_006772.3(SYNGAP1):c.3963_3964del (p.Ala1322fs)
NM_006772.3(SYNGAP1):c.3968_3969insCCCCC (p.Pro1325fs)
NM_006772.3(SYNGAP1):c.820C>T (p.Leu274=) rs1325101897

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