Table 2.
Frequency of VRK1 (OMIN 602168) pathogenic variants in the Genome Aggregation Database (genomAD)28.
| VRK1 pathogenic variant |
Allele Frequency28 | ClinVar (allele ID) |
Presentation of recessive variants |
|---|---|---|---|
|
R89Q (rs773138218) |
3.19e-5 | 197213 | Compound heterozygous |
|
H119R (rs371295780) |
2.83e-5 | 209204 | Compound heterozygous |
|
R133C (rs387906830) |
1.2e-5 | 30243 | Homozygous |
| G135R | de novo (?) | — | Compound heterozygous |
|
L195V (rs748878251) |
7.96e-6 | 533534 | Compound heterozygous |
|
V236M (rs771364038) |
2.39e-5 | 218924 | Compound heterozygous |
|
R321C (rs772731615) |
1.95e-4 | 209205 | Compound heterozygous |
|
R358X (rs137853063) |
6.39e-5 | 7497 |
Homozygous & Compound heterozygous |