RS150885084 CLCN1
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What This Variant Does
"CLNSIG=5
Associated Conditions
Congenital myotonia
autosomal recessive form
autosomal dominant form
Smith-Lemli-Opitz syndrome
Tip-toe gait
CLCN1-related disorder
Skeletal muscle channelopathy
Congenital myotonia
autosomal recessive form
autosomal dominant form
Congenital myotonia
autosomal recessive form
autosomal dominant form
Smith-Lemli-Opitz syndrome
Tip-toe gait
Other Variants in CLCN1