ClinVar Miner

List of variants in gene SYNGAP1 reported by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.2047A>G (p.Ile683Val) rs147668681
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.3661C>T (p.Arg1221Trp) rs2151199464
NM_006772.3(SYNGAP1):c.3834dup (p.Ala1279fs) rs2151202533
NM_006772.3(SYNGAP1):c.739C>T (p.Gln247Ter) rs1554120978

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