Table 2.
Characteristics of twelve top carrier rates described popular variant in 338 Vietnamese women.
| Gene | Associated disorder | mRNA accession | Variant type | Nucleotide change | Protein change | dbSNP | No of cases | Allele frequency | gnomAD_EAS | ACMG criteria |
|---|---|---|---|---|---|---|---|---|---|---|
| GJB2 | Hearing impairment | NM_004004.6 | Missense | c.109G>A | p.Val37Ile | rs72474224 | 57 | 0.1805 | 0.0827 | PS3 PS4 PM1 PM5 PP1 PP3 |
| HBB | Beta-thalassemia | NM_000518.5 | Missense | c.79G>A | p.Glu27Lys | rs33950507 | 18 | 0.0533 | 0.0013 | PS3 PS4 PM1 PM5 |
| CFTR | Cystic fibrosis | NM_000492.4 | INTRON | c.1210-11T>G | p.? | rs73715573 | 12 | 0.0355 | 0.0202 | PS3 PS4 PP5 |
| G6PD | G6PD deficient | NM_000402.4 | Missense | c.961G>A | p.Val321Met | rs137852327 | 5 | 0.0148 | 0.0039 | PS3 PS4 PP2 PP3 |
| ATP7B | Wilson disease | NM_000053.4 | Missense | c.2549C>T | p.Thr850Ile | rs777629392 | 4 | 0.0059 | 0.000111 | PS4 PM2 PP3 PP5 |
| USH2A | Usher syndrome, type 2A | NM_206933.4 | Missense | c.6929C>T | p.Thr2310Met | rs151057466 | 3 | 0.0089 | 0.0003 | PS4 PM2 PP3 |
| GAA | Glycogen storage disease II | NM_000152.5 | Missense | c.752C>T | p.Ser251Leu | rs200856561 | 3 | 0.0059 | 0.00193 | PS3 PS4 |
| AGXT | Hyperoxaluria, primary, type 1 | NM_000030.3 | Missense | c.32C>G | p.Pro11Arg | rs34116584 | 5 | 0.0148 | 0.0015 | PS3 PS4-M PP3 |
| GALC | Glucose metabolic disorder | NM_000153.4 | Missense | c.1901 T>C | p.Leu634Ser | rs138577661 | 2 | 0.0059 | 0.0087 | PS3 PP1 PP3 PP5 |
| GRHPR | Hyperoxaluria, primary, type II | NM_012203.2 | Frame-shift | c.864_865delTG | p.Val289fs*22 | rs180177321 | 4 | 0.0118 | 0.0009 | PVS1 PS4-M PP5 |
| RDH12 | Leber Congenital Amaurosis 13 | NM_152443.3 | Missense | c.164C>T | p.Thr55Met | rs766631462 | 3 | 0.0089 | 0.0001 | PS3 PS4-M PM2 PM5 PP3 |
| RPGRIP1L | Meckel syndrome type 5 | NM_015272.5 | Frame-shift | c.3299_3300dupTC | p.Ala1101fs*34 | rs797045104 | 2 | 0.0059 | 0.00177 | PVS1 PP5-M |