Table 2.
Pathogenic variants identified from the NIPT call set.
| Variant information | ClinVar annotations | Allele frequency | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| chr | Position | dbSNP | Ref | Alt | ID | Gene | Conditions | NIPT (%) | gnomAD EAS (%) | gnomAD (%) |
| chr18 | 57,571,588 | rs2272783 | A | G | 562 | FECH | Erythropoietic protoporphyria | 28.10 | 32.57 | 11.23 |
| chr13 | 20,189,473 | rs72474224 | C | T | 17023 | GJB2 | Nonsyndromic hearing loss and deafness | 13.40 | 8.35 | 0.76 |
| chr13 | 72,835,359 | rs17089782 | G | A | 217689 | PIBF1 | Joubert syndrome | 6.80 | 5.13 | 1.36 |
| chr6 | 26,090,951 | rs1799945 | C | G | 10 | HFE | Hemochromatosis type 1 | 5.10 | 3.41 | 10.82 |
| chr2 | 31,529,325 | rs9332964 | C | T | 3351 | SRD5A2 | 5-alpha reductase deficiency | 2.90 | 0.67 | 0.05 |