rs119103214
|
1.000 |
0.120 |
3 |
183037218 |
missense variant |
C/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103215
|
1.000 |
0.120 |
3 |
183039093 |
missense variant |
A/G
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103216
|
1.000 |
0.120 |
3 |
183034068 |
missense variant |
G/A
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs119103218
|
1.000 |
0.120 |
3 |
183037432 |
missense variant |
A/C
|
snv
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1229069160
|
1.000 |
0.120 |
3 |
183072457 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1311374961
|
1.000 |
0.120 |
3 |
183092510 |
frameshift variant |
CT/-
|
delins
|
4.0E-06
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1326114075
|
1.000 |
0.120 |
3 |
183057318 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1333357031
|
1.000 |
0.120 |
3 |
183041687 |
missense variant |
C/T
|
snv
|
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs150862707
|
1.000 |
0.120 |
3 |
183052169 |
stop gained |
A/G;T
|
snv
|
4.1E-04;
1.2E-05
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553850609
|
1.000 |
0.120 |
3 |
183022454 |
frameshift variant |
TTCGCTTTACTAGC/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553856095
|
1.000 |
0.120 |
3 |
183045508 |
frameshift variant |
AT/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560224024
|
1.000 |
0.120 |
3 |
183041571 |
frameshift variant |
GTACTCC/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1560256569
|
1.000 |
0.120 |
3 |
183071018 |
stop gained |
TCTC/GCTATGCTAT
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs185741664
|
1.000 |
0.120 |
3 |
183057343 |
stop gained |
G/A
|
snv
|
4.5E-05
|
2.1E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199914879
|
1.000 |
0.120 |
3 |
183071208 |
splice donor variant |
A/T
|
snv
|
8.0E-06
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs398124350
|
1.000 |
0.120 |
3 |
183045422 |
frameshift variant |
C/-
|
delins
|
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727504004
|
1.000 |
0.120 |
3 |
183071066 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs748201122
|
1.000 |
0.120 |
3 |
183071310 |
missense variant |
C/A;T
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs750484977
|
1.000 |
0.120 |
3 |
183045516 |
stop gained |
G/C
|
snv
|
8.0E-06
|
7.0E-06
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs754460336
|
1.000 |
0.120 |
3 |
183092486 |
missense variant |
G/A
|
snv
|
6.4E-05
|
5.6E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs757362635
|
1.000 |
0.120 |
3 |
183071290 |
missense variant |
A/G;T
|
snv
|
2.4E-05;
1.2E-05
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs762463914
|
1.000 |
0.120 |
3 |
183099440 |
start lost |
T/C
|
snv
|
1.8E-05
|
3.5E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs773433541
|
1.000 |
0.120 |
3 |
183057358 |
missense variant |
A/C;G
|
snv
|
8.1E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs794727036
|
1.000 |
0.120 |
3 |
183041695 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796051985
|
1.000 |
0.120 |
3 |
183041640 |
frameshift variant |
CA/-
|
delins
|
4.0E-06
|
1.4E-05
|
3-methylcrotonyl CoA carboxylase 1 deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|