TABLE 4.
Gene | Defining variant | Variant type (mutation) | Allele frequency (%) |
Clinical significance | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Gabon | Africa | ESN | GWD | LWK | MSL | YRI | Global | ||||
KCNH2 | rs1805123 | Missense (K897T) | 1 | 5.2 | 0 | 0.4 | 0.5 | 0 | 0 | 22.1 | Benign |
rs41314354 | Missense (G873S) | 1 | 0.3 | 1 | 0 | 0 | 0.6 | 0 | <0.1 | Likely benign | |
rs370393086 | Missense (R878C) | 1 | 0.1 | 0 | 0 | 0 | 0 | 0 | <0.1 | Likely benign | |
rs41314366 | Missense (T859M) | 1 | 0.3 | 1 | 0 | 0 | 0.6 | 0 | <0.1 | Benign | |
rs138498207 | Missense (R791W) | 1 | 0.1 | 0 | 0 | 0 | 0 | 0.5 | <0.1 | Controversial | |
rs150817714 | Missense (A190T) | 1 | 0.3 | 0 | 0 | 0 | 0 | 0 | 0.1 | Controversial | |
G6PD | rs782402416 | Missense (H129P) | 1 | <0.1 | 0 | 0 | 0 | 0 | 0 | 0 | Uncertain |
rs1050829 | Missense (N126D) | 33.3 | 31.9 | 35.2 | 35.7 | 34.4 | 28.1 | 37.8 | 1.1 | Controversial | |
rs1433928824 | Missense (M207T) | 1 | <0.1 | 0 | 0 | 0 | 0 | 0 | 0.4 | Uncertain | |
rs1050828 | Missense (V68M) | 16.7 | 11.6 | 15.7 | 4.1 | 17.5 | 7 | 20.7 | 1 | Pathogenic |
YRI, Yoruba in Ibadan in Nigeria; LWK, Luhya in Webuye in Kenya; GWD, Gambians in Western Divisions in the Gambia; MSL, Mende in Sierra Leone; ESN, Esan in Nigeria.