List of variants reported as likely pathogenic for neuromuscular junction disease by Ricardo Maselli Laboratory, University of California Davis

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_021815.5(SLC5A7):c.1207T>C (p.Tyr403His)
NM_021815.5(SLC5A7):c.1349G>A (p.Gly450Glu)
NM_021815.5(SLC5A7):c.178+2T>C

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