rs277995
|
1.000 |
0.120 |
5 |
71626656 |
missense variant |
G/C
|
snv
|
2.8E-05
|
4.9E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs398124370
|
1.000 |
0.120 |
5 |
71641022 |
missense variant |
A/T
|
snv
|
4.0E-06
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124371
|
1.000 |
0.120 |
5 |
71587541 |
missense variant |
C/T
|
snv
|
7.5E-06
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs535519604
|
1.000 |
0.120 |
5 |
71604422 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs547662164
|
1.000 |
0.120 |
5 |
71604421 |
missense variant |
C/T
|
snv
|
2.8E-05
|
3.5E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs587776533
|
1.000 |
0.120 |
5 |
71604359 |
frameshift variant |
-/T
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2001 |
2001 |
rs727504011
|
1.000 |
0.120 |
5 |
71649247 |
missense variant |
C/T
|
snv
|
1.6E-05
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs748028684
|
1.000 |
0.120 |
5 |
71599679 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs750782118
|
1.000 |
0.120 |
5 |
71646239 |
missense variant |
A/C;G
|
snv
|
4.0E-06;
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs752866557
|
1.000 |
0.120 |
5 |
71604362 |
missense variant |
C/G;T
|
snv
|
2.0E-05
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs754741111
|
1.000 |
0.120 |
5 |
71650070 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs757052602
|
1.000 |
0.120 |
5 |
71641068 |
missense variant |
A/T
|
snv
|
3.6E-04
|
1.1E-04
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2011 |
2015 |
rs758506791
|
1.000 |
0.120 |
5 |
71649180 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs760420191
|
1.000 |
0.120 |
5 |
71626668 |
missense variant |
C/T
|
snv
|
2.8E-05
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs765438239
|
1.000 |
0.120 |
5 |
71641057 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs766753795
|
1.000 |
0.120 |
5 |
71626703 |
missense variant |
A/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2016 |
2016 |
rs769558016
|
1.000 |
0.120 |
5 |
71650125 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs770769655
|
1.000 |
0.120 |
5 |
71626744 |
frameshift variant |
-/C
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs771440617
|
1.000 |
0.120 |
5 |
71649109 |
missense variant |
G/A;C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2001 |
2016 |
rs773115035
|
1.000 |
0.120 |
5 |
71635200 |
missense variant |
A/G
|
snv
|
2.0E-05
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs773774134
|
1.000 |
0.120 |
5 |
71604412 |
missense variant |
C/T
|
snv
|
1.6E-05
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
1 |
2005 |
2005 |
rs774241918
|
1.000 |
0.120 |
5 |
71652750 |
missense variant |
G/A;T
|
snv
|
2.4E-05;
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs886043524
|
1.000 |
0.120 |
5 |
71626667 |
missense variant |
G/A
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs979584886
|
1.000 |
0.120 |
5 |
71652729 |
missense variant |
G/A
|
snv
|
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 2 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|