ClinVar Miner

List of variants reported as pathogenic for neuromuscular junction disease by MOLECULAR BIOLOGY AND HUMAN GENETICS DIVISION, THE UNIVERSITY OF BURDWAN

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000080.4(CHRNE):c.501-10_504dup rs768552387

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