Classification
Category 4
Common ExAC MAF
original cat: TYPE_3 - five_prime_intronic
CMH MAF
50 /
6916 samples
(0.723%)
50 het.,
0 hom.
(100%)
50 /
13832 total alleles
(0.361%)
Genes
gene: RERE
synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599
NM_001042681.1
[intron]
hgvs_c: NM_001042681.1:c.879+20C>T
splice impact: five_prime_intronic
protein sequence:
NP_001036146.1
NM_012102.3
[intron]
Reportable
hgvs_c: NM_012102.3:c.879+20C>T
protein sequence:
NP_036234.3
dbSNP
rs77037803
GMAF = 0.009784
TOPMED_MAF = 0.00843367737003058
ClinVar
445602
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000349,0.032683,0.011302
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
323 / 10324 |
3.13% |
| America/Latino |
14 / 11524 |
0.121% |
| East Asian |
0 / 8620 |
0% |
| Finnish |
0 / 6608 |
0% |
| Non-Finnish |
6 / 66474 |
0.00903% |
| Other |
1 / 902 |
0.111% |
| South Asian |
1 / 16458 |
0.00608% |
| Total MAF |
345 / 120910 |
0.285% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
746 / 23992 |
3.11% |
| America/Latino |
68 / 34302 |
0.198% |
| Ashkenazi Jewish |
0 / 10126 |
0% |
| East Asian |
0 / 18808 |
0% |
| Finnish |
0 / 25768 |
0% |
| Non-Finnish |
12 / 126260 |
0.0095% |
| Other |
6 / 6452 |
0.093% |
| South Asian |
2 / 30492 |
0.00656% |
| Total MAF |
834 / 276200 |
0.302% |
Export Variant