RS137854523 ANO5
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What This Variant Does
"Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LG...
Associated Conditions
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder
Gnathodiaphyseal dysplasia
Hereditary fructosuria
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Acute rhabdomyolysis
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma
Autosomal recessive limb-girdle muscular dystrophy type 2L
ANO5-related disorder
Gnathodiaphyseal dysplasia
Hereditary fructosuria
Miyoshi muscular dystrophy 3
Autosomal recessive limb-girdle muscular dystrophy
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
0%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in ANO5