ClinVar Miner

List of variants in gene SYNGAP1 reported by OMIM

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1084T>C (p.Trp362Arg) rs1581987445
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006772.3(SYNGAP1):c.2294+1G>A rs1554121970
NM_006772.3(SYNGAP1):c.2438del (p.Leu813fs) rs397515320
NM_006772.3(SYNGAP1):c.2677del (p.Gln893fs) rs1581995953
NM_006772.3(SYNGAP1):c.412A>T (p.Lys138Ter) rs121918315
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter) rs397514741
NM_006772.3(SYNGAP1):c.510-1G>A rs2151161019
SYNGAP1, TRP267TER

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