RS113994204 CTNS

Health Risk Chr 17:3648903 del inframe deletion
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What This Variant Does
"CLNSIG=255
Associated Conditions
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Ocular cystinosis
Juvenile nephropathic cystinosis
Cystinosis
Population Frequencies
gnomAD ALL
0%
Other Variants in CTNS
rs121908124 rs1567695026 rs113994205 rs121908126 rs113994210 rs113994207 rs887657778 rs2507610571 rs121908127 rs121908128
Ask Dr. Hemsworth about this variant