ClinVar Miner

Variants from SingHealth Duke-NUS Institute of Precision Medicine

Location: Singapore — Primary collection method: curation
Minimum submission review status: Collection method:
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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 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, 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
MOCS1 0 1 0 0 0 1
MOCS2 1 0 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
Glutaric aciduria, type 2 0 2 3 1 0 6
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 4 1 1 0 0 6
Megaloblastic anemia due to inborn errors of metabolism 0 2 3 0 0 5
Neonatal intrahepatic cholestasis caused by citrin deficiency 4 0 0 0 0 4
Wilson disease 3 1 0 0 0 4
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
Segawa syndrome, autosomal recessive 1 2 0 0 0 3
6-pyruvoyl-tetrahydropterin 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
Molybdenum cofactor deficiency, complementation group A 1 1 0 0 0 2
Mucopolysaccharidosis type VII 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
Aspartylglucosaminuria 0 1 0 0 0 1
Biotin-thiamine-responsive basal ganglia disease 0 1 0 0 0 1
Cerebral folate 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
Dysostosis multiplex 0 0 1 0 0 1
GLUT1 deficiency syndrome 1 0 0 1 0 0 1
Glutaric aciduria, type 1 1 0 0 0 0 1
Homocysteinemia due to MTHFR deficiency 0 1 0 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
Sepiapterin reductase deficiency 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 2 0 0 1 0 0 1
mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 0 1 0 0 0 1

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