Table 2 Allele frequency and carrier rate of variants in a cohort of 300 newborns
From: A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns
Gene screening | Nucleotide variant | Homozygous | Heterozygous | Homoplasmy | Heteroplasmy | Total | Allele frequency | Carrier rate |
|---|---|---|---|---|---|---|---|---|
GJB2 | c.109G>A | 0 | 13 | – | – | 13 | 0.022 | 0.043 |
GJB2 | c.235delC | 0 | 8 | – | – | 8 | 0.013 | 0.027 |
SLC26A4 | c.919-2A>G | 1 | 3 | – | – | 4 | 0.008 | 0.013 |
SLC26A4 | c.1975G>C | 0 | 3 | – | – | 3 | 0.005 | 0.010 |
MT-RNR1 | m.1095T>C | – | – | 3 | – | 3 | – | 0.010 |
GJB2 | c.176_191del | 0 | 2 | – | – | 2 | 0.003 | 0.007 |
SLC26A4 | c.589G>A | 0 | 2 | – | – | 2 | 0.003 | 0.007 |
GJB2 | c.299_300delAT | 0 | 1 | – | – | 1 | 0.002 | 0.003 |
SLC26A4 | c.1173C>A | 0 | 1 | – | – | 1 | 0.002 | 0.003 |
Total | – | 1 | 33 | 3 | 0 | 37 | – | 0.123 |