{{Rsnum
|rsid=10282312
|Gene=CLCN1
|Chromosome=7
|position=143320714
|Orientation=plus
|ReferenceAllele=T
|MissenseAllele=G
|GMAF=0.009183
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 0.0 | 3.1 | 96.9
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 0.0 | 100.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=10282312
|allele=T
|frequency=0.983
|uid=1103652725404
|type=homozygous_SNP
|hugo=CLCN1
|ensembl gene=ENSG00000188037
|ensembl transcript=ENST00000343257
|sift=TOLERATED
|disease=Defects in CLCN1 are the cause of autosomal recessive myotonia congenita (MCR) (MIM:255700); also known as Becker disease.
}}

{{GET Evidence
|gene=CLCN1
|aa_change=Gly118Trp
|aa_change_short=G118W
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs10282312
|overall_frequency_n=10577
|overall_frequency_d=10758
|overall_frequency=0.983175
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=107
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=2
|webscore=N
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}