RS41272699 DES
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What This Variant Does
"CLNSIG=5
Associated Conditions
Congenital diaphragmatic hernia
Myofibrillar myopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome
Kaeser type
Desmin-related myofibrillar myopathy
Cardiomyopathy
Congenital diaphragmatic hernia
Myofibrillar myopathy
Cardiovascular phenotype
Dilated cardiomyopathy 1I
Neurogenic scapuloperoneal syndrome
Kaeser type
Desmin-related myofibrillar myopathy
Other Variants in DES