Classification
Category 4
curation
CMH MAF
90 /
11950 samples
(0.753%)
89 het.,
1 hom.
(98.9%)
91 /
23900 total alleles
(0.381%)
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 |
778 / 24926 |
3.12% |
| America/Latino |
69 / 35254 |
0.196% |
| Ashkenazi Jewish |
0 / 10342 |
0% |
| East Asian |
0 / 19890 |
0% |
| Finnish |
0 / 25092 |
0% |
| Non-Finnish |
14 / 128740 |
0.0109% |
| Other |
8 / 7202 |
0.111% |
| South Asian |
1 / 30342 |
0.0033% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14362 |
0% |
| Bulgarian |
2 / 2668 |
0.075% |
| Estonian |
0 / 4826 |
0% |
| North-Western European |
4 / 50550 |
0.00791% |
| Southern European |
2 / 11588 |
0.0173% |
| Swedish |
0 / 26126 |
0% |
| Other non-Finnish European |
6 / 32982 |
0.0182% |
| Total MAF |
870 / 281788 |
0.309% |
curated_classification = 4
Export Variant