ClinVar Miner

List of variants in gene combination CHRNE, LOC130060041 reported as uncertain significance 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)
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Total variants: 2

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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.1071GCC[4] (p.Pro360dup)	rs752226476

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