List of variants in gene TAPBPL, VAMP1 studied for congenital myasthenic syndrome

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_014231.5(VAMP1):c.130-25T>A	rs2534718	0.96882
NM_014231.5(VAMP1):c.*1588T>C	rs1045452	0.70161
NM_014231.5(VAMP1):c.252C>A (p.Ala84=)	rs2072375	0.27430
NM_014231.5(VAMP1):c.3-6C>T	rs749846681	0.00002
NM_014231.5(VAMP1):c.128_129del (p.Glu43fs)	rs1565527140
NM_014231.5(VAMP1):c.129+1G>A	rs1565527137
NM_014231.5(VAMP1):c.146G>C (p.Arg49Pro)	rs754046104
NM_014231.5(VAMP1):c.340del (p.Ile114fs)	rs746220436
NM_014231.5(VAMP1):c.341-2A>G
NM_014231.5(VAMP1):c.51_64del (p.Gly18fs)	rs1565527239

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