ClinVar Miner

List of variants studied for Myasthenic syndrome, congenital, 1B, fast-channel by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000079.4(CHRNA1):c.298A>T (p.Ile100Phe) rs752761320
NM_000079.4(CHRNA1):c.376A>G (p.Thr126Ala)

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