Classification
Category 3
five_prime_flank
CMH MAF
33 /
9594 samples
(0.344%)
33 het.,
0 hom.
(100%)
33 /
19188 total alleles
(0.172%)
Genes
gene: DVL1
synonym(s): DVL, DVL1L1, DVL1P1, DVL1, ENSG00000107404
NM_004421.2
[intron]
Reportable
hgvs_c: NM_004421.2:c.605+6_605+7del
splice impact: five_prime_flank
protein sequence:
NP_004412.2
dbSNP
rs573517540
GMAF = 0.004992
TOPMED_MAF = 0.00610824413863404
ClinVar
376849
clinvar_significance = Likely_benign
clinvar_submission_scv = SCV000510745.1
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.001213,0.021586,0.008155
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
183 / 9986 |
1.83% |
| America/Latino |
15 / 11328 |
0.132% |
| East Asian |
0 / 8560 |
0% |
| Finnish |
0 / 6296 |
0% |
| Non-Finnish |
4 / 63566 |
0.00629% |
| Other |
0 / 830 |
0% |
| South Asian |
0 / 13526 |
0% |
| Total MAF |
202 / 114092 |
0.177% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
436 / 23898 |
1.82% |
| America/Latino |
31 / 34156 |
0.0908% |
| Ashkenazi Jewish |
0 / 9848 |
0% |
| East Asian |
0 / 18794 |
0% |
| Finnish |
0 / 25542 |
0% |
| Non-Finnish |
11 / 123658 |
0.0089% |
| Other |
5 / 6364 |
0.0786% |
| South Asian |
0 / 30192 |
0% |
| Total MAF |
483 / 272452 |
0.177% |
Export Variant