1:10032249-10032249 A > G

Classification

Category 4 curation
CMH MAF 154 / 11998 samples (1.28%)
151 het., 3 hom. (98.1%)
157 / 23996 total alleles (0.654%)

gene: NMNAT1 synonym(s): LCA9, NMNAT, PNAT1, NMNAT1, ENSG00000173614

OMIM
OMIM:608700: NMNAT1 (Autosomal recessive inheritance)
OMIM:608553: Leber congenital amaurosis 9

NM_022787.3 [intron]
hgvs_c: NM_022787.3:c.115+3A>G
splice impact: five_prime_flank
protein sequence: NP_073624.2

rs181504239
GMAF = 0.0007987
TOPMED_MAF = 0.00398987003058103

522303
clinvar_significance = Likely_benign
clinvar_disease = Leber congenital amaurosis 9

EVS
EVS MAF (European American/African American/All) = 0.005349,0.001135,0.003921

ExAC Finnish, (68 / 6614), 1.03%
gnomAD Swedish, (374 / 26090), 1.43% curated_classification = 4