ClinVar Miner

List of variants in gene SYNGAP1 reported by New York Genome Center

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00006
NM_006772.3(SYNGAP1):c.1118G>T (p.Gly373Val) rs774819723 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln) rs772336493 0.00002
NM_006772.3(SYNGAP1):c.514C>T (p.Arg172Trp) rs142649710 0.00001
NM_006772.3(SYNGAP1):c.1586T>C (p.Ile529Thr) rs2151172455
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
NM_006772.3(SYNGAP1):c.295+1551G>A rs2151138610
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro) rs2151191235
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3835G>A (p.Ala1279Thr) rs1165427519

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