List of variants reported as pathogenic for neuromuscular junction disease by New York Genome Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer)	rs1380136176	0.00001
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs)	rs773526895

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