List of variants in gene CLCN1 reported as benign for Congenital myotonia, autosomal recessive 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)	rs10282312	0.98349
NM_000083.3(CLCN1):c.1167-141G>T	rs2367941	0.88632
NM_000083.3(CLCN1):c.1065-108G>A	rs2242493	0.63143
NM_000083.3(CLCN1):c.2154C>T (p.Asp718=)	rs2272251	0.44456
NM_000083.3(CLCN1):c.1402-9C>T	rs2272252	0.44267
NM_000083.3(CLCN1):c.433+72C>G	rs7800971	0.43455
NM_000083.3(CLCN1):c.2180C>T (p.Pro727Leu)	rs13438232	0.39778
NM_000083.3(CLCN1):c.2284+33C>G	rs56680997	0.39032
NM_000083.3(CLCN1):c.261C>T (p.Thr87=)	rs6962852	0.37404
NM_000083.3(CLCN1):c.301+27T>A	rs6948526	0.15429

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