Table 2 Unique variants of carrier status in CFTR, HEXA, and HBB
From: Genomic sequencing identifies secondary findings in a cohort of parent study participants
Unique variant info | No. of individuals |
|---|---|
CFTR (MIM 219700) | 4.4% of total population |
F508del | 22 |
G685fs | 3 |
D1152H | 2 |
G551D | 2 |
G542* | 2 |
R117H | 2 |
c.489+1G>T | 1 |
F342Hfs | 1 |
HEXA(MIM 272800) | 0.6% of total population |
Y427Ifs | 2 |
c.986+3A>G | 1 |
c.459+5G>A | 1 |
c.1073+1G>A | 1 |
HBB(MIM 603903; 613985) | 1% of total population |
E7V | 6 |
E27K | 1 |
G40* | 1 |
