rs1419840309
|
1.000 |
0.160 |
10 |
97584826 |
frameshift variant |
T/-
|
del
|
3.2E-05
|
1.4E-05
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1425736036
|
1.000 |
0.160 |
10 |
97584819 |
frameshift variant |
-/C
|
delins
|
4.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554874130
|
1.000 |
0.160 |
10 |
97599088 |
splice acceptor variant |
G/A
|
snv
|
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1554874148
|
1.000 |
0.160 |
10 |
97599152 |
frameshift variant |
T/-
|
del
|
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs1564760008
|
1.000 |
0.160 |
10 |
97601990 |
splice donor variant |
GG/TT
|
mnv
|
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs200529020
|
1.000 |
0.160 |
10 |
97598894 |
missense variant |
G/A
|
snv
|
3.2E-05
|
2.1E-05
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs746776892
|
1.000 |
0.160 |
10 |
97599194 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
4.2E-05
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs764396564
|
1.000 |
0.160 |
10 |
97584837 |
missense variant |
C/G;T
|
snv
|
2.0E-05;
1.3E-04
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs770050262
|
1.000 |
0.160 |
10 |
97601990 |
splice region variant |
G/A;T
|
snv
|
1.1E-04;
6.6E-05
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs776817346
|
1.000 |
0.160 |
10 |
97601855 |
splice acceptor variant |
A/G
|
snv
|
4.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs777683624
|
1.000 |
0.160 |
10 |
97599158 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
7.0E-06
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs796052091
|
1.000 |
0.160 |
10 |
97584861 |
frameshift variant |
A/-
|
del
|
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs924232072
|
1.000 |
0.160 |
10 |
97584709 |
frameshift variant |
-/TGGTC
|
delins
|
4.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs990830655
|
1.000 |
0.160 |
10 |
97600165 |
splice donor variant |
T/A;G
|
snv
|
4.0E-06;
4.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs397509360
|
1.000 |
0.160 |
10 |
97611612 |
inframe deletion |
AGG/-
|
delins
|
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
8 |
2010 |
2016 |
rs185803104
|
1.000 |
0.160 |
10 |
97600168 |
splice region variant |
G/T
|
snv
|
1.2E-03
|
1.5E-03
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
6 |
2010 |
2015 |
rs138207257
|
0.925 |
0.160 |
10 |
97611535 |
missense variant |
G/A;T
|
snv
|
2.0E-05;
1.1E-04
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
5 |
2010 |
2012 |
rs267606763
|
1.000 |
0.160 |
10 |
97584912 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs267606764
|
1.000 |
0.160 |
10 |
97601925 |
missense variant |
T/G
|
snv
|
6.4E-05
|
3.5E-05
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs202047589
|
0.925 |
0.160 |
10 |
97599780 |
missense variant |
C/T
|
snv
|
4.4E-05
|
7.0E-05
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs756489804
|
1.000 |
0.160 |
10 |
97611514 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs796052086
|
1.000 |
0.160 |
10 |
97601919 |
stop gained |
C/A;T
|
snv
|
1.6E-05
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs201803986
|
1.000 |
0.160 |
10 |
97584810 |
missense variant |
C/A;T
|
snv
|
1.2E-05;
1.7E-04
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs149150736
|
1.000 |
0.160 |
10 |
97611582 |
missense variant |
C/T
|
snv
|
2.8E-05
|
2.8E-05
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs746419489
|
0.925 |
0.160 |
10 |
97584820 |
stop gained |
C/A;T
|
snv
|
8.0E-06
|
|
Primary hyperoxaluria type III
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |