List of variants reported as likely pathogenic for congenital myasthenic syndrome 9 by Invitae

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113457663)_(113524508_?)dup
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)
NM_005592.4(MUSK):c.1184+2T>C
NM_005592.4(MUSK):c.1185-2A>G
NM_005592.4(MUSK):c.1360+1G>A
NM_005592.4(MUSK):c.1586+1G>A
NM_005592.4(MUSK):c.1778+1G>T	rs2132026515
NM_005592.4(MUSK):c.206+2T>C
NM_005592.4(MUSK):c.207-1G>A
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)	rs2078085499
NM_005592.4(MUSK):c.486+1G>C	rs1204788520
NM_005592.4(MUSK):c.754-1G>T
NM_005592.4(MUSK):c.754-2A>G	rs1587986079
NM_005592.4(MUSK):c.913+2T>C
NM_005592.4(MUSK):c.920+1G>A

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