RS113994207 CTNS

Health Risk Chr 17:3656702 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Ocular cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis
Cystinosis
Ocular cystinosis
Nephropathic cystinosis
Inborn genetic diseases
Juvenile nephropathic cystinosis
Cystinosis
Population Frequencies
gnomAD ALL
100%
Other Variants in CTNS
rs121908124 rs1567695026 rs113994205 rs121908126 rs113994210 rs887657778 rs2507610571 rs121908127 rs121908128 rs121908129
Ask Dr. Hemsworth about this variant