List of variants in gene MUSK reported as likely pathogenic for congenital myasthenic syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_005592.4(MUSK):c.308A>G (p.Asn103Ser)	rs551423795	0.00001
NC_000009.11:g.(?_113431213)_(113441760_?)del
NC_000009.11:g.(?_113496521)_(113524498_?)dup
NM_005592.4(MUSK):c.1043A>C (p.Gln348Pro)
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.2360C>T (p.Ala787Val)
NM_005592.4(MUSK):c.2382G>C (p.Glu794Asp)	rs756877019
NM_005592.4(MUSK):c.2461C>T (p.Leu821Phe)	rs2078085499
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu)	rs375737188
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.790_791delinsTGC (p.Arg264fs)
NM_005592.4(MUSK):c.913+2T>C
NM_005592.4(MUSK):c.920+1G>A

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