ClinVar Miner

List of variants in gene CLCN1 reported as likely benign for Myotonia congenita

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Total variants: 27
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HGVS dbSNP
NM_000083.3(CLCN1):c.*29C>T rs202172391
NM_000083.3(CLCN1):c.1205C>T (p.Ala402Val) rs202119213
NM_000083.3(CLCN1):c.1309G>A (p.Ala437Thr) rs41276054
NM_000083.3(CLCN1):c.1797-9C>T rs41276057
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.2124C>T (p.Phe708=) rs769811983
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.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2244G>A (p.Leu748=) rs78085922
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.3(CLCN1):c.2901C>T (p.Ala967=) rs143082508
NM_000083.3(CLCN1):c.316C>G (p.Leu106Val) rs145517198
NM_000083.3(CLCN1):c.369T>C (p.Leu123=) rs745674068
NM_000083.3(CLCN1):c.434-14A>G rs200263856
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.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.563-9C>T rs201404573
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.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140

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