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