The CLCN1(NM_000083):c.892G>A(p.Ala298Thr) and CLCN1(NM_000083):c.1130G>A(p.Arg377Gln) rare variants were observed in patient 11, the former was reported to have a damaging effect on CLCN1 in congenital myotonia patients according to the ClinVar database; the latter was predicted to be deleterious by the CADD and REVEL scoring tools. The gene discussed is CLCN1; the disease is congenital myotonia.