ClinVar Miner

List of variants in gene SYNGAP1 reported as likely pathogenic by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs) rs1554121671
NM_006772.3(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=) rs1057518786
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs) rs1057518796

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