List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1642G>A (p.Glu548Lys)	rs546411827	0.00002
NM_000083.3(CLCN1):c.577G>A (p.Glu193Lys)	rs80356686	0.00001
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)	rs756199349
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)	rs1027814542
NM_000083.3(CLCN1):c.2576G>A (p.Gly859Asp)
NM_000083.3(CLCN1):c.434-2_434dup	rs753470655
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)

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