ClinVar Miner

List of variants reported as likely pathogenic for Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form

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Total variants: 10
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HGVS dbSNP
NM_000083.3(CLCN1):c.1167-10T>C rs543120965
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg)
NM_000083.3(CLCN1):c.1649C>T (p.Thr550Met) rs762754992
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.2596-1G>A rs771721648
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp)
NM_000083.3(CLCN1):c.480G>C (p.Gln160His)
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val)

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