ClinVar Miner

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

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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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.465+20_465+21del rs55968420

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