List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form by MGZ Medical Genetics Center

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu)	rs1282349760	0.00001
NM_000083.3(CLCN1):c.871G>A (p.Glu291Lys)	rs121912805	0.00001
NM_000083.3(CLCN1):c.1044_1056del (p.Ala350fs)
NM_000083.3(CLCN1):c.1919T>G (p.Val640Gly)	rs1803111906

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