List of variants in gene CHRNE reported as likely pathogenic for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1220-1G>A	rs373710822	0.00001
NM_000080.4(CHRNE):c.1220-2A>G	rs1309292778	0.00001
NM_000080.4(CHRNE):c.1231C>T (p.Gln411Ter)	rs1969839736	0.00001
NM_000080.4(CHRNE):c.1127dup (p.Leu378fs)
NM_000080.4(CHRNE):c.1254dup (p.Glu419fs)	rs769945146
NM_000080.4(CHRNE):c.1291G>C (p.Ala431Pro)	rs121909517
NM_000080.4(CHRNE):c.1297_1314dup (p.Ser433_Glu438dup)	rs1969834618
NM_000080.4(CHRNE):c.1309C>T (p.Gln437Ter)	rs2507538508
NM_000080.4(CHRNE):c.1319_1326+15del	rs1208462125
NM_000080.4(CHRNE):c.1327-2A>C
NM_000080.4(CHRNE):c.1379G>A (p.Trp460Ter)	rs1157836847
NM_000080.4(CHRNE):c.1381_1390del (p.Ala461fs)	rs2509299493
NM_000080.4(CHRNE):c.1429del (p.Ala477fs)	rs1396286715
NM_000080.4(CHRNE):c.1433dup (p.Tyr478Ter)
NM_000080.4(CHRNE):c.991C>T (p.Arg331Trp)	rs121909515

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