List of variants in gene SYT2 reported as pathogenic for neuromuscular junction disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
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.1191del (p.Arg397fs)	rs2149063864
NM_177402.5(SYT2):c.465+1G>A	rs2149069543
NM_177402.5(SYT2):c.725dup (p.Val243fs)	rs2149068434
NM_177402.5(SYT2):c.797_801+1del
NM_177402.5(SYT2):c.805G>T (p.Glu269Ter)	rs2149067131
NM_177402.5(SYT2):c.920A>C (p.Asp307Ala)	rs587777781
NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)	rs587777782

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