ClinVar Miner

List of variants studied for Congenital myasthenic syndrome 16 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)	rs1188070167	0.00001
NM_000334.4(SCN4A):c.3625T>C (p.Cys1209Arg)	rs1598406692

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