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

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Total variants: 11

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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.1167-10T>C	rs543120965	0.00004
NM_000083.3(CLCN1):c.1471+1G>A	rs375596425	0.00001
NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)	rs80356704	0.00001
NM_000083.3(CLCN1):c.2364+2T>A	rs886041384	0.00001
NM_000083.3(CLCN1):c.1282_1285del (p.Phe428fs)	rs752041565
NM_000083.3(CLCN1):c.1495G>A (p.Gly499Arg)	rs121912807
NM_000083.3(CLCN1):c.1649C>G (p.Thr550Arg)	rs762754992
NM_000083.3(CLCN1):c.378dup (p.Leu127fs)	rs1320040467
NM_000083.3(CLCN1):c.771T>A (p.Tyr257Ter)	rs1802495428

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