ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 5 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005677.4(COLQ):c.1250G>A (p.Cys417Tyr)
NM_005677.4(COLQ):c.738del (p.Val247fs)
NM_005677.4(COLQ):c.865G>T (p.Gly289Ter)

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