ClinVar Miner

List of variants in gene SYT2 studied for congenital myasthenic syndrome 7

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_177402.5(SYT2):c.117C>T (p.Ser39=) rs1968583 0.40960
NM_177402.5(SYT2):c.804G>A (p.Pro268=) rs115267501 0.03394
NM_177402.5(SYT2):c.199G>A (p.Ala67Thr) rs147177966 0.00017
NM_177402.5(SYT2):c.1081G>A (p.Asp361Asn)
NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del) rs2149063996
NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro) rs2149064005
NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys) rs1690318147
NM_177402.5(SYT2):c.358G>A (p.Ala120Thr) rs987703370
NM_177402.5(SYT2):c.465+20_465+21del rs55968420
NM_177402.5(SYT2):c.87del (p.Ser30fs) rs1690679018
NM_177402.5(SYT2):c.920A>C (p.Asp307Ala) rs587777781
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu) rs587777782

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