rs587776511
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs113758103
|
|
Tyrosine Transaminase Deficiency Disease
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs118203914
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
|
9544843 |
1998 |
rs118203914
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs118203915
|
|
Tyrosine Transaminase Deficiency Disease
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs118203916
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.
|
16917729 |
2006 |
rs118203916
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.
|
1357662 |
1992 |
rs1426882225
|
|
Tyrosine Transaminase Deficiency Disease
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555537662
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555537673
|
|
Tyrosine Transaminase Deficiency Disease
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555537741
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555537814
|
|
Tyrosine Transaminase Deficiency Disease
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555537871
|
|
Tyrosine Transaminase Deficiency Disease
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555538138
|
|
Tyrosine Transaminase Deficiency Disease
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1555538156
|
|
Tyrosine Transaminase Deficiency Disease
|
CA |
0.700 |
GeneticVariation
|
CLINVAR |
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.
|
27832414 |
2017 |
rs587776512
|
|
Tyrosine Transaminase Deficiency Disease
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs746077579
|
|
Tyrosine Transaminase Deficiency Disease
|
AG |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs748924248
|
|
Tyrosine Transaminase Deficiency Disease
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs761817519
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
|
28255985 |
2017 |
rs761817519
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Richner-Hanhart syndrome detected by expanded newborn screening.
|
18577048 |
2008 |
rs761817519
|
|
Tyrosine Transaminase Deficiency Disease
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
|
9544843 |
1998 |
rs775488556
|
|
Tyrosine Transaminase Deficiency Disease
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.
|
9544843 |
1998 |