RS119462985 POMT1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
type B1
Walker-Warburg congenital muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy type 2K
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A1
Population Frequencies
gnomAD ALL
100%
1kG AFR
99.9%
1kG ALL
100%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in POMT1