ClinVar Miner

List of variants in gene SYNGAP1 reported as uncertain significance for not provided

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_006772.3(SYNGAP1):c.1771G>A (p.Ala591Thr) rs946029100 0.00003
NM_006772.3(SYNGAP1):c.2362T>A (p.Ser788Thr) rs201062426 0.00003
NM_006772.3(SYNGAP1):c.2369C>A (p.Thr790Asn) rs552867155 0.00003
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.3055C>T (p.Arg1019Cys) rs777763120 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.4013G>A (p.Arg1338Gln) rs747376669 0.00002
NM_006772.3(SYNGAP1):c.113C>T (p.Pro38Leu) rs764259746 0.00001
NM_006772.3(SYNGAP1):c.1962G>A (p.Glu654=) rs373857862 0.00001
NM_006772.3(SYNGAP1):c.2221C>T (p.Pro741Ser) rs760257950 0.00001
NM_006772.3(SYNGAP1):c.2811T>C (p.Asp937=) rs1449497761 0.00001
NM_006772.3(SYNGAP1):c.2837G>A (p.Gly946Glu) rs752316341 0.00001
NM_006772.3(SYNGAP1):c.29G>C (p.Arg10Pro) rs866982002 0.00001
NM_006772.3(SYNGAP1):c.303C>A (p.His101Gln) rs1434337349 0.00001
NM_006772.3(SYNGAP1):c.3374G>C (p.Gly1125Ala) rs1170784913 0.00001
NM_006772.3(SYNGAP1):c.3624G>C (p.Arg1208=) rs1476852507 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.-1G>A
NM_006772.3(SYNGAP1):c.1006AAG[1] (p.Lys337del) rs2151169092
NM_006772.3(SYNGAP1):c.1045C>T (p.Pro349Ser) rs2151169190
NM_006772.3(SYNGAP1):c.1154C>T (p.Ser385Leu) rs766006911
NM_006772.3(SYNGAP1):c.1199T>A (p.Val400Glu) rs1581987752
NM_006772.3(SYNGAP1):c.1214G>C (p.Arg405Pro)
NM_006772.3(SYNGAP1):c.1224_1226del (p.Met409del) rs2151169927
NM_006772.3(SYNGAP1):c.1322T>C (p.Val441Ala)
NM_006772.3(SYNGAP1):c.1329C>T (p.Gly443=) rs2151170280
NM_006772.3(SYNGAP1):c.1349C>A (p.Ala450Glu) rs1189124390
NM_006772.3(SYNGAP1):c.13C>T (p.Arg5Ter) rs2151121492
NM_006772.3(SYNGAP1):c.1409T>C (p.Met470Thr) rs2151171048
NM_006772.3(SYNGAP1):c.1423C>T (p.Arg475Trp) rs1760915141
NM_006772.3(SYNGAP1):c.1428C>G (p.Phe476Leu) rs1349979668
NM_006772.3(SYNGAP1):c.1465C>T (p.Leu489Phe) rs1554121340
NM_006772.3(SYNGAP1):c.1502T>C (p.Ile501Thr)
NM_006772.3(SYNGAP1):c.1505G>A (p.Gly502Asp) rs1554121354
NM_006772.3(SYNGAP1):c.1540A>T (p.Ile514Phe)
NM_006772.3(SYNGAP1):c.1579G>T (p.Asp527Tyr) rs1760932359
NM_006772.3(SYNGAP1):c.1621G>C (p.Ala541Pro) rs1554121439
NM_006772.3(SYNGAP1):c.1639T>C (p.Cys547Arg) rs2151172638
NM_006772.3(SYNGAP1):c.1673A>G (p.His558Arg)
NM_006772.3(SYNGAP1):c.1678G>A (p.Val560Met)
NM_006772.3(SYNGAP1):c.1697AGG[1] (p.Glu567del) rs2151180443
NM_006772.3(SYNGAP1):c.169C>T (p.Leu57Phe)
NM_006772.3(SYNGAP1):c.1741C>T (p.Arg581Trp) rs2151180654
NM_006772.3(SYNGAP1):c.1752C>G (p.Ile584Met) rs1761010544
NM_006772.3(SYNGAP1):c.1763T>C (p.Leu588Pro)
NM_006772.3(SYNGAP1):c.1778T>A (p.Leu593His)
NM_006772.3(SYNGAP1):c.1787G>T (p.Arg596Leu)
NM_006772.3(SYNGAP1):c.1947G>C (p.Met649Ile) rs2151182327
NM_006772.3(SYNGAP1):c.196C>G (p.Pro66Ala) rs1776941906
NM_006772.3(SYNGAP1):c.1976C>T (p.Ser659Phe) rs2151182395
NM_006772.3(SYNGAP1):c.2003C>T (p.Ser668Phe) rs2151182460
NM_006772.3(SYNGAP1):c.2086C>G (p.Leu696Val)
NM_006772.3(SYNGAP1):c.2210A>C (p.Gln737Pro)
NM_006772.3(SYNGAP1):c.2215G>C (p.Glu739Gln)
NM_006772.3(SYNGAP1):c.2224C>T (p.Arg742Trp)
NM_006772.3(SYNGAP1):c.2243T>G (p.Leu748Arg) rs886868218
NM_006772.3(SYNGAP1):c.2282G>C (p.Arg761Pro) rs1203597280
NM_006772.3(SYNGAP1):c.2434C>T (p.Pro812Ser) rs2151188091
NM_006772.3(SYNGAP1):c.2443C>G (p.Arg815Gly) rs1216243827
NM_006772.3(SYNGAP1):c.2444G>T (p.Arg815Leu)
NM_006772.3(SYNGAP1):c.250C>G (p.Arg84Gly) rs2151134609
NM_006772.3(SYNGAP1):c.2514C>A (p.Asn838Lys) rs1192656888
NM_006772.3(SYNGAP1):c.2627C>T (p.Ser876Leu)
NM_006772.3(SYNGAP1):c.263T>C (p.Val88Ala)
NM_006772.3(SYNGAP1):c.266C>T (p.Pro89Leu) rs1554119830
NM_006772.3(SYNGAP1):c.2711T>C (p.Met904Thr) rs2151188795
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.2753C>T (p.Ala918Val) rs2151188913
NM_006772.3(SYNGAP1):c.277C>G (p.Arg93Gly)
NM_006772.3(SYNGAP1):c.2858C>A (p.Pro953Gln) rs2151189198
NM_006772.3(SYNGAP1):c.28C>T (p.Arg10Trp) rs1167492483
NM_006772.3(SYNGAP1):c.291G>T (p.Glu97Asp) rs2151134743
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.3041G>T (p.Gly1014Val) rs1581996568
NM_006772.3(SYNGAP1):c.3125A>G (p.Gln1042Arg)
NM_006772.3(SYNGAP1):c.3154G>A (p.Gly1052Arg)
NM_006772.3(SYNGAP1):c.3251C>A (p.Pro1084His)
NM_006772.3(SYNGAP1):c.3287A>C (p.Glu1096Ala)
NM_006772.3(SYNGAP1):c.3314G>A (p.Arg1105Gln)
NM_006772.3(SYNGAP1):c.3344_3352del (p.Ile1115_Gly1117del)
NM_006772.3(SYNGAP1):c.3345_3353dup (p.1118SGG[3]) rs1761121084
NM_006772.3(SYNGAP1):c.3354C>A (p.Ser1118Arg)
NM_006772.3(SYNGAP1):c.3361A>G (p.Ser1121Gly)
NM_006772.3(SYNGAP1):c.3377G>T (p.Gly1126Val) rs2151191157
NM_006772.3(SYNGAP1):c.3404A>C (p.Lys1135Thr) rs2151191254
NM_006772.3(SYNGAP1):c.3405G>C (p.Lys1135Asn) rs1561790136
NM_006772.3(SYNGAP1):c.3487C>G (p.His1163Asp) rs2151192993
NM_006772.3(SYNGAP1):c.3511_3512delinsTG (p.Ala1171Cys)
NM_006772.3(SYNGAP1):c.3582+5G>A rs1323082596
NM_006772.3(SYNGAP1):c.3686A>C (p.Gln1229Pro) rs2151199539
NM_006772.3(SYNGAP1):c.3705G>A (p.Met1235Ile)
NM_006772.3(SYNGAP1):c.3788T>C (p.Ile1263Thr) rs1451330589
NM_006772.3(SYNGAP1):c.3795-7C>G rs1761241320
NM_006772.3(SYNGAP1):c.3860C>T (p.Pro1287Leu) rs1374327029
NM_006772.3(SYNGAP1):c.391G>C (p.Gly131Arg)
NM_006772.3(SYNGAP1):c.3977C>G (p.Pro1326Arg)
NM_006772.3(SYNGAP1):c.3G>A (p.Met1Ile) rs1292609217
NM_006772.3(SYNGAP1):c.44C>T (p.Ala15Val)
NM_006772.3(SYNGAP1):c.451G>C (p.Asp151His)
NM_006772.3(SYNGAP1):c.508C>T (p.Arg170Trp) rs1777198713
NM_006772.3(SYNGAP1):c.509+5A>C rs780314191
NM_006772.3(SYNGAP1):c.59C>T (p.Pro20Leu) rs1562867414
NM_006772.3(SYNGAP1):c.611C>G (p.Ser204Cys) rs2151161251
NM_006772.3(SYNGAP1):c.835C>T (p.Arg279Trp) rs2151168530
NM_006772.3(SYNGAP1):c.844T>A (p.Cys282Ser)
NM_006772.3(SYNGAP1):c.862G>A (p.Asp288Asn)
NM_006772.3(SYNGAP1):c.877C>T (p.Arg293Cys)
NM_006772.3(SYNGAP1):c.899C>T (p.Ser300Phe) rs2151168751
NM_006772.3(SYNGAP1):c.901G>A (p.Ala301Thr) rs1581987146
NM_006772.3(SYNGAP1):c.953C>T (p.Pro318Leu) rs780238395
NM_006772.3(SYNGAP1):c.971G>A (p.Arg324Gln)

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