RS121908285 HGSNAT

Health Risk Chr 8:43182161 snv missense variant
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What This Variant Does
"[OMIM:?]
Associated Conditions
Mucopolysaccharidosis
MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Retinal dystrophy
Mucopolysaccharidosis
MPS-III-C
Retinitis pigmentosa 73
Sanfilippo syndrome
Retinal dystrophy
Population Frequencies
gnomAD ALL
100%
Other Variants in HGSNAT
rs193066451 rs483352894 rs121908282 rs121908283 rs121908284 rs483352895 rs483352896 rs121908286 rs483352908 rs398124544
Ask Dr. Hemsworth about this variant