ClinVar Miner

List of variants in gene SYNGAP1 reported as likely pathogenic by Invitae

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NC_000006.11:g.(?_33393555)_(33393700_?)dup
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro) rs1581987885
NM_006772.3(SYNGAP1):c.1532-1G>A rs1760930644
NM_006772.3(SYNGAP1):c.1676+1G>A rs2151172748
NM_006772.3(SYNGAP1):c.1677-2A>G rs2151180361
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.189+1G>A
NM_006772.3(SYNGAP1):c.1913+1G>A rs2151181124
NM_006772.3(SYNGAP1):c.1913+2_1913+5del rs2151181120
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro) rs1581992998
NM_006772.3(SYNGAP1):c.2104_2115+14del rs1064792984
NM_006772.3(SYNGAP1):c.2337-1G>A
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg) rs1761103512
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys) rs1761113561
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.3795-1G>C rs1761241410
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=) rs767126748
NM_006772.3(SYNGAP1):c.663+1G>T rs1064797322
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro) rs2151161955
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro) rs1561784553
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)

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