| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
|
rs55716270 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Intron variant |
|
rs199845217 |
C>A,G |
Conflicting-interpretations-of-pathogenicity |
Intron variant, genic downstream transcript variant |
|
rs572609303 |
AGAAGA>-,AGA,AGAAGAAGA,AGAAGAAGAAGAAGA |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, inframe insertion, inframe deletion |
|
rs750908377 |
T>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs751970061 |
T>- |
Pathogenic-likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
|
rs772483312 |
A>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs886043167 |
TG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1359602238 |
AAGGA>- |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1364819755 |
->TGTT |
Pathogenic |
Frameshift variant, coding sequence variant |
|
rs1555451465 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
rs1567314662 |
AGGTGAGCCTTGCTTTG>- |
Likely-pathogenic |
Splice donor variant, intron variant, coding sequence variant |
|
rs1595112176 |
ACTCT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |
|
rs1595123894 |
CACT>- |
Likely-pathogenic |
Frameshift variant, coding sequence variant |