11:76868309-76868310 - > TGCCCACATTTT

Classification

Category 5 curation
CMH MAF 164 / 13786 samples (1.19%)
161 het., 3 hom. (98.2%)
167 / 27572 total alleles (0.606%)

gene: MYO7A synonym(s): DFNA11, DFNB2, MYOVIIA, MYU7A, NSRD2, USH1B, MYO7A, ENSG00000137474

OMIM
OMIM:276903: MYO7A (Autosomal dominant inheritance)
OMIM:601317: Deafness, autosomal dominant 11
OMIM:600060: Deafness, autosomal recessive 2
OMIM:276900: Usher syndrome, type 1B

NM_000260.3 [intron]
hgvs_c: NM_000260.3:c.736-15_736-4dupTGCCCACATTTT
splice impact: polypyrimidine_tract
protein sequence: NP_000251.3

rs111033503
GMAF = 0.02037

43342
clinvar_significance = Benign

EVS
EVS MAF (European American/African American/All) = 0.001646,0.052546,0.017863

ExAC African, (343 / 4990), 6.87%
gnomAD African, (1142 / 21364), 5.35% curated_classification = 5