ClinVar Miner

List of variants in gene CLCN1 reported as benign for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Total variants: 18
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HGVS dbSNP
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.3(CLCN1):c.1402-9C>T rs2272252
NM_000083.3(CLCN1):c.1797-9C>T rs41276057
NM_000083.3(CLCN1):c.1815T>C (p.Val605=) rs141945240
NM_000083.3(CLCN1):c.2136T>C (p.Asp712=) rs73726622
NM_000083.3(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.302-4C>T rs113839156
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.3(CLCN1):c.352= (p.Gly118=) rs10282312
NM_000083.3(CLCN1):c.450C>T (p.Tyr150=) rs56307536
NM_000083.3(CLCN1):c.461A>G (p.Gln154Arg) rs111482384
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.663G>A (p.Ala221=) rs147317366
NM_000083.3(CLCN1):c.804G>A (p.Thr268=) rs141521078
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140

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