Table 2.
Jurkat variants found in the ClinVar database
| rsID | Jurkat AF | Gene | Phenotype | ClinVar accession |
|---|---|---|---|---|
| ClinVar substitutions | ||||
| rs63750636 | 1.0 | MSH2 | Lynch syndrome | RCV000076405.3 |
| rs397517342 | 0.75 | CDH23 | Usher syndrome type 1D | RCV000039224.2 |
| rs397516435 | 0.25 | TP53 | Li-Fraumeni syndrome | RCV000205265.3 |
| ClinVar short deletions | ||||
| rs63750075 | — | MSH6 | Lynch syndrome | RCV000074711.2 |
| rs398122841 | — | BAX | Carcinoma of colon | RCV000010120.5 |
| rs397508104 | — | KCNQ1-(AS1) | Long QT syndrome | RCV000046039.3 |
| rs750664956 | — | ASPM | Not provided | RCV000217980.1 |
| rs786204835 | — | PURA | Not provided | RCV000169739.5 |
| ClinVar short insertions | ||||
| rs397507178 | — | RAD50 | Hereditary cancer | RCV000030958.3 |
| rs398122840 | — | BAX | Carcinoma of colon | RCV000010119.5 |