ClinVar Miner

List of variants reported as pathogenic for Congenital myotonia, autosomal recessive form by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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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.180+3A>T	rs202217420	0.00019
NM_000083.3(CLCN1):c.908G>A (p.Trp303Ter)	rs1229066957	0.00001

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