ClinVar Miner

List of variants in gene SYNGAP1 studied for Intellectual disability

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.121C>T (p.Arg41Cys) rs762142487 0.00001
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser) rs1760905358
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1760G>C (p.Arg587Thr) rs1761010851
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs) rs1761049027
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter) rs1554122249
NM_006772.3(SYNGAP1):c.3233_3255del (p.Val1078fs) rs2151190588
NM_006772.3(SYNGAP1):c.3583-6G>A rs869312674
NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs) rs2151202533
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys) rs1554121202

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