Variants/SNV | HGVS nomenclature | Position on gene | Amino acid substitution | Ref. allele frequency (global)a | Clinical significanceb |
---|---|---|---|---|---|
CD 3 (T>C); rs713040 | HBB:c.9T>C | Exon 1 | Histidine>Histidine | 0.16030 | Benign |
CD 41/42 (-CTTT); rs80356821 | HBB:c.126_129delCTTT | Exon 2 | Frameshift (F42fs) | 0.000278 | Pathogenic (premature termination codon) |
IVS-II-16 (G>C); rs10768683 | HBB:c.315 + 16G>C | Intron 2 | Intronic Variant | 0.16670 | Likely-benign, Benign |
IVS-II-666 (C>T); rs1609812 | HBB:c.316 − 185C>T | Intron 2 | Intronic Variant | 0.169423 | Benign |