615573.8.1

Country

Arab

HPO Terms

Edema; Fatigue; Focal segmental glomerulosclerosis; Stage 5 chronic kidney disease; Congestive heart failure; Rod-cone dystrophy; Hypospadias

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024876.4:c.645del2
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