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

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.2864A>T (p.Glu955Val)	rs150796358	0.00003
NM_000083.3(CLCN1):c.-59C>A
NM_000083.3(CLCN1):c.1027T>A (p.Phe343Ile)
NM_000083.3(CLCN1):c.1600G>A (p.Gly534Ser)
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)

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