H3Africa Consortium
General information
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 40
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| ANK1 | 1 | Nov 8, 2021 |
| APOC2 | 1 | Nov 8, 2021 |
| APOC4-APOC2 | 1 | Nov 8, 2021 |
| APOE | 1 | Nov 8, 2021 |
| BCL11A | 1 | Nov 8, 2021 |
| BLK | 1 | Nov 8, 2021 |
| CCDC170 | 2 | Nov 8, 2021 |
| CCDST | 1 | Nov 8, 2021 |
| CCR5 | 1 | Nov 8, 2021 |
| CCR5AS | 1 | Nov 8, 2021 |
| CD36 | 1 | Nov 8, 2021 |
| CD4 | 1 | Nov 8, 2021 |
| CST3 | 1 | Nov 8, 2021 |
| ERCC1 | 1 | Nov 8, 2021 |
| FGFR4 | 1 | Nov 8, 2021 |
| FLG | 1 | Nov 8, 2021 |
| GATA4 | 3 | Nov 8, 2021 |
| GCDH | 1 | Nov 8, 2021 |
| HBB | 1 | Oct 12, 2022 |
| HTT | 1 | Nov 8, 2021 |
| IRGM | 1 | Nov 8, 2021 |
| KLKB1 | 1 | Nov 8, 2021 |
| KRT8 | 1 | Nov 8, 2021 |
| LDLRAP1 | 1 | Nov 8, 2021 |
| LOC106099062 | 1 | Oct 12, 2022 |
| LOC107133510 | 1 | Oct 12, 2022 |
| LOC126805969 | 1 | Nov 8, 2021 |
| LOC130005389 | 1 | Nov 8, 2021 |
| LOC130065547 | 1 | Nov 8, 2021 |
| MBL2 | 1 | Nov 8, 2021 |
| MIR181A1HG | 5 | Nov 8, 2021 |
| NOBOX | 1 | Nov 8, 2021 |
| NUCB2 | 1 | Nov 8, 2021 |
| PAH | 1 | Nov 8, 2021 |
| PIK3R5 | 1 | Nov 8, 2021 |
| POLR1G | 1 | Nov 8, 2021 |
| PTPRJ | 1 | Nov 8, 2021 |
| RAD51 | 1 | Nov 8, 2021 |
| STOX1 | 1 | Nov 8, 2021 |
| WFS1 | 1 | Nov 8, 2021 |
| ZEB1 | 1 | Nov 8, 2021 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hb SS disease | 1 | Oct 12, 2022 |
| not specified | 39 | Nov 8, 2021 |