ClinVar Miner

List of variants in gene SYNGAP1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1532-5C>G rs928381854 0.00006
NM_006772.3(SYNGAP1):c.2864C>T (p.Ser955Phe) rs753575634 0.00005
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His) rs758932190 0.00004
NM_006772.3(SYNGAP1):c.1771G>A (p.Ala591Thr) rs946029100 0.00003
NM_006772.3(SYNGAP1):c.2699C>T (p.Thr900Met) rs751157497 0.00003
NM_006772.3(SYNGAP1):c.1677-4C>G rs538524761 0.00002
NM_006772.3(SYNGAP1):c.3380G>C (p.Gly1127Ala) rs777482147 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.2195G>A (p.Arg732Lys) rs934177451 0.00001
NM_006772.3(SYNGAP1):c.2218C>T (p.Arg740Trp) rs1761047927 0.00001
NM_006772.3(SYNGAP1):c.2881C>T (p.His961Tyr) rs756181133 0.00001
NM_006772.3(SYNGAP1):c.3457C>T (p.Arg1153Trp) rs1554122465 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.1408A>G (p.Met470Val)
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe) rs1554121340
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro) rs1480178032
NM_006772.3(SYNGAP1):c.1635G>A (p.Met545Ile)
NM_006772.3(SYNGAP1):c.1786C>T (p.Arg596Cys)
NM_006772.3(SYNGAP1):c.1814C>G (p.Pro605Arg) rs1761018819
NM_006772.3(SYNGAP1):c.1966G>C (p.Glu656Gln)
NM_006772.3(SYNGAP1):c.2200C>T (p.Pro734Ser)
NM_006772.3(SYNGAP1):c.2294+5G>T
NM_006772.3(SYNGAP1):c.2354G>A (p.Arg785His)
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.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.2863T>C (p.Ser955Pro)
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.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.3348GGGCAGCGG[3] (p.1118SGG[3]) rs761763671
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro) rs2151191235
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.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.3806T>A (p.Val1269Glu) rs1554122884
NM_006772.3(SYNGAP1):c.3903dup (p.Pro1304fs) rs1761346213
NM_006772.3(SYNGAP1):c.3907G>A (p.Gly1303Ser)
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) rs1292609217
NM_006772.3(SYNGAP1):c.406C>T (p.Arg136Trp) rs1777195467
NM_006772.3(SYNGAP1):c.431C>T (p.Thr144Met)
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn) rs998489108
NM_006772.3(SYNGAP1):c.74G>A (p.Arg25Gln)

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