ClinVar Miner

List of variants in gene SYNGAP1 reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 46
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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.1776A>G (p.Ser592=) rs150153477 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.447A>G (p.Lys149=) rs544817923 0.00012
NM_006772.3(SYNGAP1):c.1455C>T (p.Arg485=) rs201107225 0.00011
NM_006772.3(SYNGAP1):c.2664C>T (p.Ala888=) rs759995681 0.00009
NM_006772.3(SYNGAP1):c.2583G>A (p.Ser861=) rs375587730 0.00007
NM_006772.3(SYNGAP1):c.2125C>T (p.Leu709=) rs543705054 0.00006
NM_006772.3(SYNGAP1):c.2845G>A (p.Gly949Ser) rs141341400 0.00005
NM_006772.3(SYNGAP1):c.3834C>T (p.Pro1278=) rs555363112 0.00004
NM_006772.3(SYNGAP1):c.501C>T (p.Asp167=) rs138286163 0.00004
NM_006772.3(SYNGAP1):c.3303C>T (p.Pro1101=) rs776355446 0.00002
NM_006772.3(SYNGAP1):c.140G>A (p.Arg47Gln) rs1034171771 0.00001
NM_006772.3(SYNGAP1):c.2324G>A (p.Arg775Gln) rs761691865 0.00001
NM_006772.3(SYNGAP1):c.2910G>A (p.Glu970=) rs1060504899 0.00001
NM_006772.3(SYNGAP1):c.1300G>A (p.Val434Ile) rs797046027
NM_006772.3(SYNGAP1):c.156G>A (p.Ser52=) rs1554304681
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer) rs797046028
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs) rs587780470
NM_006772.3(SYNGAP1):c.1865CCCTCA[1] (p.622TL[1]) rs1554121722
NM_006772.3(SYNGAP1):c.198C>T (p.Pro66=) rs73402305
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs) rs797046029
NM_006772.3(SYNGAP1):c.2067C>T (p.Leu689=) rs1554121850
NM_006772.3(SYNGAP1):c.2168C>T (p.Thr723Ile) rs774729898
NM_006772.3(SYNGAP1):c.2206C>T (p.Arg736Cys) rs1202720979
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs) rs587780474
NM_006772.3(SYNGAP1):c.2619C>G (p.Ser873Arg) rs2151188538
NM_006772.3(SYNGAP1):c.2724G>C (p.Gln908His) rs1554122236
NM_006772.3(SYNGAP1):c.272A>G (p.Glu91Gly) rs1554119835
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter) rs749188610
NM_006772.3(SYNGAP1):c.2983C>T (p.Pro995Ser) rs1554122279
NM_006772.3(SYNGAP1):c.3174T>G (p.Gly1058=) rs1485118493
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3363C>T (p.Ser1121=) rs1478769596
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs) rs797046030
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs) rs1554122735
NM_006772.3(SYNGAP1):c.3902C>A (p.Pro1301His) rs199694815
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.762+1G>T rs797046031

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