ClinVar Miner

Variants from SingHealth Duke-NUS Institute of Precision Medicine

Location: Singapore  Primary collection method: curation
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
19 25 32 4 2 82

Gene and significance breakdown #

Total genes and gene combinations: 48
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
ATP7B 3 1 0 0 0 4
CUBN 0 2 2 0 0 4
SLC25A13 4 0 0 0 0 4
BTD 1 1 1 0 0 3
COQ8A 0 1 2 0 0 3
ETFB 0 0 2 1 0 3
MMUT 1 1 1 0 0 3
TH 1 2 0 0 0 3
ARSA 0 0 1 0 1 2
COQ2 0 1 1 0 0 2
CPS1 0 0 1 1 0 2
DBT 0 0 1 0 1 2
ETFDH 0 2 0 0 0 2
GUSB 0 1 1 0 0 2
HLCS 1 0 1 0 0 2
IVD 0 0 2 0 0 2
MAN2B1 2 0 0 0 0 2
MMACHC 2 0 0 0 0 2
NAGLU 0 1 1 0 0 2
OTC 0 0 2 0 0 2
PAH 1 0 0 1 0 2
PDHA1 0 2 0 0 0 2
PTS 1 0 1 0 0 2
ACAT1 0 1 0 0 0 1
AGA, AGA-DT 0 1 0 0 0 1
AMN 0 0 1 0 0 1
APTX 0 0 1 0 0 1
BCKDHB 0 0 1 0 0 1
COQ2, LOC112997540 0 0 1 0 0 1
CYP27A1 0 0 1 0 0 1
DHCR7 0 1 0 0 0 1
ETFA 0 0 1 0 0 1
FOLR1 0 0 1 0 0 1
GCDH, LOC126862860, SYCE2 1 0 0 0 0 1
GLDC 0 0 1 0 0 1
HMGCS2 0 1 0 0 0 1
IDUA 0 0 1 0 0 1
LOC129993881, MOCS2 1 0 0 0 0 1
MOCS1 0 1 0 0 0 1
MTHFR 0 1 0 0 0 1
NAGS 0 1 0 0 0 1
NPC1 0 1 0 0 0 1
OXCT1 0 0 0 1 0 1
PDHX 0 1 0 0 0 1
SLC19A3 0 1 0 0 0 1
SLC2A1 0 0 1 0 0 1
SPR 0 0 1 0 0 1
TAT 0 0 1 0 0 1

Condition and significance breakdown #

Total conditions: 38
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Coenzyme Q10 deficiency, primary, 1 0 2 5 0 0 7
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 1 1 0 0 6
Multiple acyl-CoA dehydrogenase deficiency 0 2 3 1 0 6
Imerslund-Grasbeck syndrome 0 2 3 0 0 5
Neonatal intrahepatic cholestasis due to citrin deficiency 4 0 0 0 0 4
Wilson disease 3 1 0 0 0 4
Autosomal recessive DOPA responsive dystonia 1 2 0 0 0 3
Biotinidase deficiency 1 1 1 0 0 3
Maple syrup urine disease 0 0 2 0 1 3
Pyruvate dehydrogenase E1-alpha deficiency 0 3 0 0 0 3
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency 1 0 1 0 0 2
Congenital hyperammonemia, type I 0 0 1 1 0 2
Holocarboxylase synthetase deficiency 1 0 1 0 0 2
Isovaleryl-CoA dehydrogenase deficiency 0 0 2 0 0 2
Metachromatic leukodystrophy 0 0 1 0 1 2
Mucopolysaccharidosis type 7 0 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-B 0 1 1 0 0 2
Ornithine carbamoyltransferase deficiency 0 0 2 0 0 2
Phenylketonuria 1 0 0 1 0 2
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 1 1 0 0 0 2
3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 1 0 0 0 1
Aspartylglucosaminuria 0 1 0 0 0 1
Biotin-responsive basal ganglia disease 0 1 0 0 0 1
Cerebral folate transport deficiency 0 0 1 0 0 1
Cholestanol storage disease 0 0 1 0 0 1
Deficiency of acetyl-CoA acetyltransferase 0 1 0 0 0 1
Deficiency of alpha-mannosidase 1 0 0 0 0 1
Dopa-responsive dystonia due to sepiapterin reductase deficiency 0 0 1 0 0 1
Encephalopathy due to GLUT1 deficiency 0 0 1 0 0 1
Glutaric aciduria, type 1 1 0 0 0 0 1
Homocystinuria due to methylene tetrahydrofolate reductase deficiency 0 1 0 0 0 1
Hurler syndrome 0 0 1 0 0 1
Hyperammonemia, type III 0 1 0 0 0 1
Niemann-Pick disease, type C1 0 1 0 0 0 1
Non-ketotic hyperglycinemia 0 0 1 0 0 1
Smith-Lemli-Opitz syndrome 0 1 0 0 0 1
Succinyl-CoA acetoacetate transferase deficiency 0 0 0 1 0 1
Tyrosinemia type II 0 0 1 0 0 1

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