List of variants in gene SNAP25 reported as pathogenic for Congenital myasthenic syndrome 18

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)	rs2123063830
NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)	rs1555794286
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr)	rs2123120544
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)	rs2123159234
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)	rs2123159470
NM_130811.4(SNAP25):c.529C>T (p.Gln177Ter)	rs2514853451
SNAP25, VAL48PHE

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