List of variants in gene CHRNE, LOC130060041 studied for Congenital myasthenic syndrome 4A; Congenital myasthenic syndrome 4C; Congenital myasthenic syndrome 4B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys)	rs757968612	0.00013
NM_000080.4(CHRNE):c.1052C>G (p.Pro351Arg)
NM_000080.4(CHRNE):c.1062_1081dup (p.Glu361fs)	rs2151094729
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup)	rs752226476
NM_000080.4(CHRNE):c.1084_1085insT (p.Ala362fs)
NM_000080.4(CHRNE):c.1096_1103dup (p.Arg371fs)
NM_000080.4(CHRNE):c.1101del (p.Pro369fs)

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