ClinVar Miner

List of variants in gene SYNGAP1 reported as pathogenic for Inborn genetic diseases

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter)
NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter) rs1561785045
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter) rs2151170078
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs) rs1554121353
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter) rs1554121443
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter) rs1554121729
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs) rs1761050922
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs) rs1581995425
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs) rs1554122252
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs) rs1064796547
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs) rs1554122341
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs) rs1131691979
NM_006772.3(SYNGAP1):c.3408+1G>A rs1554122402
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs) rs1554122710
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs) rs1761210688
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter) rs1554122729
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter) rs869312955
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter) rs1131692154
NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs) rs1554304258
NM_006772.3(SYNGAP1):c.509+1G>A rs1561781989
NM_006772.3(SYNGAP1):c.510-2A>G rs1554120894
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs) rs1554120939
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs) rs1554120966

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