List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form by Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)	rs149729531	0.00075
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)	rs121912799	0.00028
NM_000083.3(CLCN1):c.1471+1G>A	rs375596425	0.00001
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)	rs756199349
NM_000083.3(CLCN1):c.1295C>G (p.Thr432Arg)	rs1563080014
NM_000083.3(CLCN1):c.1437_1450del (p.Pro480fs)	rs768119034
NM_000083.3(CLCN1):c.775C>T (p.Gln259Ter)	rs2116842799

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