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. Author manuscript; available in PMC: 2018 Oct 13.
Published in final edited form as: Genet Med. 2018 Apr 12;20(12):1635–1643. doi: 10.1038/gim.2018.53

Table 2.

Unique variants of carrier status in CFTR, HEXA, and HBB

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