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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