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: 12
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HGVS dbSNP
NM_000083.3(CLCN1):c.1444G>C (p.Gly482Arg) rs746125212
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1667T>A (p.Ile556Asn) rs80356697
NM_000083.3(CLCN1):c.181-2A>G
NM_000083.3(CLCN1):c.2551G>A (p.Val851Met) rs749205522
NM_000083.3(CLCN1):c.2596-1G>A rs771721648
NM_000083.3(CLCN1):c.264G>A (p.Val88=) rs759188441
NM_000083.3(CLCN1):c.382A>G (p.Met128Val) rs80356699
NM_000083.3(CLCN1):c.409T>G (p.Tyr137Asp) rs748639603
NM_000083.3(CLCN1):c.480G>C (p.Gln160His) rs771532474
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.3(CLCN1):c.959C>T (p.Ala320Val) rs1478129213

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