List of variants reported as pathogenic 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.1013G>A (p.Arg338Gln)	rs80356703	0.00003
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met)	rs762754992	0.00002
NM_000083.3(CLCN1):c.2434C>T (p.Gln812Ter)	rs772150974	0.00002
NM_000083.3(CLCN1):c.929C>T (p.Thr310Met)	rs80356691	0.00001

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