List of variants reported as uncertain significance for congenital myasthenic syndrome with tubular aggregates by Fulgent Genetics, Fulgent Genetics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_033087.4(ALG2):c.475A>G (p.Ile159Val)	rs146770430	0.00055
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	rs56393253	0.00054
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)	rs375679649	0.00034
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)	rs147346291	0.00006
NM_001244710.2(GFPT1):c.1878A>G (p.Gln626=)	rs200986371	0.00002
NM_033087.4(ALG2):c.945C>T (p.Cys315=)	rs1828729293

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