rs104894942
|
1.000 |
0.120 |
X |
154413248 |
missense variant |
C/A;T
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.810 |
1.000 |
0 |
1997 |
2002 |
rs104894937
|
1.000 |
0.120 |
X |
154413549 |
missense variant |
T/C
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
0 |
1997 |
2002 |
rs132630277
|
1.000 |
0.120 |
X |
154420037 |
missense variant |
G/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
0 |
1997 |
2002 |
rs387907218
|
1.000 |
0.120 |
X |
154420676 |
missense variant |
G/A;C
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
0 |
1997 |
2002 |
rs1060500044
|
1.000 |
0.120 |
X |
154413249 |
missense variant |
G/A;T
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
1997 |
2013 |
rs1085307797
|
1.000 |
0.120 |
X |
154420094 |
missense variant |
G/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
1997 |
2014 |
rs1569552731
|
1.000 |
0.120 |
X |
154413564 |
stop gained |
C/T
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2006 |
2017 |
rs397515746
|
1.000 |
0.120 |
X |
154420038 |
missense variant |
G/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
1991 |
1997 |
rs727504327
|
1.000 |
0.120 |
X |
154413544 |
missense variant |
G/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
2 |
2001 |
2011 |
rs1557194488
|
1.000 |
0.120 |
X |
154420915 |
missense variant |
A/G
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs397515739
|
1.000 |
0.120 |
X |
154413525 |
missense variant |
T/C
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397515741
|
1.000 |
0.120 |
X |
154413507 |
missense variant |
T/C
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397515747
|
1.000 |
0.120 |
X |
154420657 |
splice acceptor variant |
G/A
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs104894941
|
0.925 |
0.120 |
X |
154412129 |
stop gained |
C/G
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1557194525
|
1.000 |
0.120 |
X |
154420961 |
frameshift variant |
C/-
|
del
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515738
|
1.000 |
0.120 |
X |
154412184 |
stop gained |
C/T
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs397515740
|
1.000 |
0.120 |
X |
154413504 |
missense variant |
T/C
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587776741
|
1.000 |
0.120 |
X |
154420211 |
splice acceptor variant |
G/C
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504394
|
1.000 |
0.120 |
X |
154420666 |
frameshift variant |
TG/-
|
delins
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs727504431
|
1.000 |
0.120 |
X |
154420212 |
missense variant |
G/T
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs781795144
|
1.000 |
0.120 |
X |
154419702 |
splice region variant |
C/G;T
|
snv
|
5.5E-06
|
9.4E-06
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs878853654
|
1.000 |
0.120 |
X |
154412203 |
missense variant |
C/G
|
snv
|
|
|
3-Methylglutaconic aciduria type 2
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|