List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.774G>A (p.Glu258=)	rs770605959	0.00001
NM_000083.3(CLCN1):c.1984C>T (p.Gln662Ter)	rs2485434733
NM_000083.3(CLCN1):c.1997_1998del (p.Cys666fs)	rs2485434788
NM_000083.3(CLCN1):c.2001dup (p.Glu668Ter)	rs2485434813
NM_000083.3(CLCN1):c.562+1G>C	rs2116837885
NM_000083.3(CLCN1):c.603dup (p.Val202fs)	rs2487033881
NM_000083.3(CLCN1):c.774+3A>C	rs2487039629
NM_000083.3(CLCN1):c.871G>T (p.Glu291Ter)	rs121912805
NM_000083.3(CLCN1):c.891del (p.Phe297fs)	rs2487057016

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