List of variants in gene CHRNE, MINK1 studied for congenital myasthenic syndrome

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_000080.4(CHRNE):c.*745G>A	rs1053751	0.82079
NM_000080.4(CHRNE):c.*868G>T	rs7774	0.36651
NM_000080.4(CHRNE):c.*837A>G	rs8834	0.34040
NM_000080.4(CHRNE):c.*906G>C	rs9914357	0.15504
NM_000080.4(CHRNE):c.*930T>G	rs116802199	0.02701
NM_000080.4(CHRNE):c.*805T>G	rs113366718	0.00265
NM_153827.5(MINK1):c.*594G>A	rs575836707	0.00177
NM_153827.5(MINK1):c.*701C>T	rs536398300	0.00111
NM_000080.4(CHRNE):c.*858G>C	rs375660349	0.00090
NM_000080.4(CHRNE):c.*902C>T	rs369145199	0.00069
NM_000080.4(CHRNE):c.*903G>A	rs549064723	0.00069
NM_000080.4(CHRNE):c.*743T>G	rs1053754
NM_000080.4(CHRNE):c.*806G>A	rs886053114
NM_000080.4(CHRNE):c.*836C>T	rs886053113
NM_000080.4(CHRNE):c.*852G>A	rs761256289
NM_000080.4(CHRNE):c.*875C>T	rs886053112
NM_000080.4(CHRNE):c.*876G>A	rs192238331

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