Gene: CLCN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs55960271
rs55960271
CLCN1
T 0.710 CausalMutation CLINVAR High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. 18807109

2008
dbSNP: rs55960271
rs55960271
CLCN1
T 0.710 CausalMutation CLINVAR Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. 11840191

2001
dbSNP: rs55960271
rs55960271
CLCN1
T 0.710 CausalMutation CLINVAR Founder mutations and the high prevalence of myotonia congenita in northern Finland. 10430417

1999
dbSNP: rs55960271
rs55960271
CLCN1
T 0.710 CausalMutation CLINVAR Three mutations (F413C), R894X, and a 14-bp deletion in exon 13) account for 32% of the GM chromosomes in the German population. 8533761

1995
dbSNP: rs80356687
rs80356687
CLCN1
T 0.710 CausalMutation CLINVAR

dbSNP: rs80356694
rs80356694
CLCN1
T 0.710 CausalMutation CLINVAR

dbSNP: rs80356697
rs80356697
CLCN1
A 0.710 CausalMutation CLINVAR

dbSNP: rs776073429
rs776073429
CLCN1
A 0.700 CausalMutation CLINVAR SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies. 26036855

2016
dbSNP: rs146457619
rs146457619
CLCN1
G 0.700 CausalMutation CLINVAR Novel N-terminal truncating CLCN1 mutation in severe Becker disease. 24920213

2014
dbSNP: rs146457619
rs146457619
CLCN1
G 0.700 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs146457619
rs146457619
CLCN1
G 0.700 CausalMutation CLINVAR CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 24349310

2013
dbSNP: rs768119034
rs768119034
CLCN1
A 0.700 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs776073429
rs776073429
CLCN1
A 0.700 CausalMutation CLINVAR Double trouble in a patient with myotonia. 23417379

2013
dbSNP: rs80356701
rs80356701
CLCN1
C 0.700 CausalMutation CLINVAR Prevalence study of genetically defined skeletal muscle channelopathies in England. 23516313

2013
dbSNP: rs146457619
rs146457619
CLCN1
G 0.700 CausalMutation CLINVAR Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. 22094069

2012
dbSNP: rs768119034
rs768119034
CLCN1
A 0.700 CausalMutation CLINVAR A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1. 22649220

2012
dbSNP: rs80356701
rs80356701
CLCN1
C 0.700 CausalMutation CLINVAR New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. 23152584

2012
dbSNP: rs776073429
rs776073429
CLCN1
A 0.700 CausalMutation CLINVAR Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies. 21387378

2011
dbSNP: rs768119034
rs768119034
CLCN1
A 0.700 CausalMutation CLINVAR Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. 18337100

2009
dbSNP: rs146457619
rs146457619
CLCN1
G 0.700 CausalMutation CLINVAR Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 17932099

2007
dbSNP: rs768119034
rs768119034
CLCN1
A 0.700 CausalMutation CLINVAR Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 17932099

2007
dbSNP: rs80356701
rs80356701
CLCN1
C 0.700 CausalMutation CLINVAR Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. 17932099

2007
dbSNP: rs762754992
rs762754992
CLCN1
T 0.700 CausalMutation CLINVAR Phenotypic variability in myotonia congenita. 15786415

2005
dbSNP: rs774843953
rs774843953
CLCN1
C 0.700 CausalMutation CLINVAR Phenotypic variability in myotonia congenita. 15786415

2005
dbSNP: rs762754992
rs762754992
CLCN1
T 0.700 CausalMutation CLINVAR Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression. 15241802

2004