10:55569084-55569110 del > -

Classification

Category 3 in_frame_indel
CMH MAF 7 / 13144 samples (0.0533%)
7 het., 0 hom. (100%)
7 / 26288 total alleles (0.0266%)

gene: PCDH15 synonym(s): CDHR15, DFNB23, USH1F, PCDH15, ENSG00000150275

OMIM
OMIM:605514: PCDH15 (Autosomal recessive inheritance)
OMIM:609533: Deafness, autosomal recessive 23
OMIM:601067: Usher syndrome, type 1D/F digenic
OMIM:602083: Usher syndrome, type 1F

rs779862544
TOPMED_MAF = 0.00015927624872579

EVS
EVS MAF (European American/African American/All) = 0.000698,0.000294,0.000568

gnomAD Swedish, (13 / 25874), 0.0502%