List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)	rs1478129213	0.00001
NM_000083.3(CLCN1):c.1255A>T (p.Met419Leu)
NM_000083.3(CLCN1):c.2364+2T>C
NM_000083.3(CLCN1):c.32del (p.Gly11fs)
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser)	rs797045032
NM_000083.3(CLCN1):c.905A>G (p.Tyr302Cys)	rs1563078716

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