RS112029032 HGSNAT

Health Risk Chr 8:43199503 snv missense variant
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What This Variant Does
"CLNSIG=5
Associated Conditions
Mucopolysaccharidosis
MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy
Retinitis pigmentosa
HGSNAT-related disorder
Retinal disorder
Mucopolysaccharidosis
MPS-III-C
Retinitis pigmentosa 73
Retinal dystrophy
Retinitis pigmentosa
HGSNAT-related disorder
Retinal disorder
Population Frequencies
gnomAD ALL
99.5%
1kG AFR
100%
1kG ALL
0.2%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
0.4%
1kG SAS
99.7%
Other Variants in HGSNAT
rs193066451 rs483352894 rs121908282 rs121908283 rs121908284 rs483352895 rs483352896 rs121908285 rs121908286 rs483352908
Ask Dr. Hemsworth about this variant