List of variants in gene combination CHRNE, LOC130060041 reported as pathogenic for neuromuscular junction disease

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1033-1G>C	rs755303686	0.00001
NM_000080.4(CHRNE):c.1033-2A>T	rs786204773	0.00001
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu)	rs1168592296	0.00001
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)	rs2151094729
NM_000080.4(CHRNE):c.1064del (p.Gly355fs)	rs1567636622
NM_000080.4(CHRNE):c.1070dup (p.Pro358fs)
NM_000080.4(CHRNE):c.1072_1081del (p.Pro358fs)
NM_000080.4(CHRNE):c.1072_1091del (p.Pro358fs)	rs932032926
NM_000080.4(CHRNE):c.1076_1115del (p.Pro359fs)	rs2151094632
NM_000080.4(CHRNE):c.1077_1098dup (p.Ser367fs)	rs1555546315
NM_000080.4(CHRNE):c.1080_1098dup (p.Ser367fs)	rs1969858094
NM_000080.4(CHRNE):c.1081_1099del (p.Glu361fs)	rs1567636493
NM_000080.4(CHRNE):c.1090del (p.Arg364fs)
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)	rs1156634884
NM_000080.4(CHRNE):c.1093del (p.Ala365fs)	rs886043239
NM_000080.4(CHRNE):c.1096_1105dup (p.Pro369fs)	rs1255916068
NM_000080.4(CHRNE):c.1108del (p.Arg370fs)	rs1969856640

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