ClinVar Miner

List of variants in gene combination CHRNE, MINK1 reported as uncertain significance for congenital myasthenic syndrome

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.*805T>G rs113366718 0.00265
NM_153827.5(MINK1):c.*594G>A rs575836707 0.00177
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.*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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