List of variants reported as pathogenic for Congenital myotonia, autosomal recessive form by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4

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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.2635C>T (p.Gln879Ter)	rs1057518917	0.00001
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)	rs80356690
NM_000083.3(CLCN1):c.979+1G>T	rs1563078827

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