List of variants in gene combination CLCN1, LOC123956257 reported as likely pathogenic for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.1951T>C (p.Ser651Pro)	rs754350357	0.00001
NM_000083.3(CLCN1):c.1931-1G>C	rs2116383424
NM_000083.3(CLCN1):c.2062G>T (p.Gly688Trp)	rs1563087092

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