List of variants reported as uncertain significance for Congenital myotonia, autosomal recessive form by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1831C>T (p.Arg611Cys)	rs146469288	0.00004
NM_000083.3(CLCN1):c.1613A>C (p.His538Pro)
NM_000083.3(CLCN1):c.180G>A (p.Gln60=)
NM_000083.3(CLCN1):c.983C>T (p.Thr328Ile)	rs780421370

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