Name | HbVar ID | HGVS name | Category | Mutation location | Occurrence |
Venezuelan nd-HPFH | 2513 | HBG1:c.-264C > T | Thalassemias | not within known transcription unit hg38: chr11 5,250,068 | Ethnic background Black |
Hb Ecuador | 2586 | HBA1:c.416C > G | Hb variants | exon hg38: chr16 177,398 | found in a woman from Ecuador |
-195 (C- > G) Agamma; the Brazilian nd-HPFH | 1011 | HBG1:c.-248C > G | Thalassemias | not within known transcription unit hg38: chr11 5,250,052 | Ethnic background Brazilian |
Hb Chile | 287 | HBB:c.85C > A | Hb variants | exon hg38: chr11 5,226,937 | Ethnic background American Indian |