1:8568666-8568666 G > A

Classification

Category 4 curation
CMH MAF 90 / 11950 samples (0.753%)
89 het., 1 hom. (98.9%)
91 / 23900 total alleles (0.381%)

gene: RERE synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599

OMIM
OMIM:605226: RERE
OMIM:616975: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

NM_012102.3 [intron]
hgvs_c: NM_012102.3:c.879+20C>T
protein sequence: NP_036234.3

rs77037803
GMAF = 0.009784
TOPMED_MAF = 0.00843367737003058

445602
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.000349,0.032683,0.011302

ExAC African, (323 / 10324), 3.13%
gnomAD African, (778 / 24926), 3.12% curated_classification = 4