ClinVar Miner

List of variants studied for Congenital myotonia, autosomal recessive form by Institute of Human Genetics, University Hospital of Duesseldorf

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271 0.00561
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs) rs768119034

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