RS121912799 CLCN1

Health Risk Chr 7:143332489 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Congenital myotonia
autosomal recessive form
autosomal dominant form
Tip-toe gait
CLCN1-related disorder
Skeletal muscle channelopathy
Congenital myotonia
autosomal recessive form
autosomal dominant form
Tip-toe gait
CLCN1-related disorder
Skeletal muscle channelopathy
Population Frequencies
gnomAD ALL
100%
Other Variants in CLCN1
rs80356700 rs1563078827 rs121912801 rs80356694 rs80356696 rs80356690 rs121912805 rs80356702 rs121912807 rs140026363
Ask Dr. Hemsworth about this variant