ClinVar Miner

Variants from Molecular Diagnostics Laboratory, Seoul National University Hospital

Location: Korea, Republic of  Primary collection method: clinical testing
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

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
24 20 13 0 0 57

Gene and significance breakdown #

Total genes and gene combinations: 25
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
JAG1 2 6 0 8
PHKA2 3 2 1 6
PYGL 1 5 0 6
ABCB11 2 2 0 4
CEP290 4 0 0 4
RPGRIP1 4 0 0 4
AHI1 2 0 0 2
CRB1 2 0 0 2
NPHP4 0 0 2 2
PHKG2 1 1 0 2
USH2A 0 0 2 2
VPS33B 0 2 0 2
COPB2-DT, RBP1 0 0 1 1
FANCA 1 0 0 1
FSCN2 0 0 1 1
GUCA1B 0 0 1 1
IQCB1 1 0 0 1
LOC122152296, USH2A 0 0 1 1
LRP5 0 0 1 1
NPHP1 0 0 1 1
NPHP3, NPHP3-ACAD11 0 0 1 1
RIMS1 0 0 1 1
SLC25A13 1 0 0 1
SMARCA4 0 1 0 1
WFS1 0 1 0 1

Condition and significance breakdown #

Total conditions: 16
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Condition pathogenic likely pathogenic uncertain significance total
Leber congenital amaurosis 0 0 12 12
Alagille syndrome due to a JAG1 point mutation 2 6 0 8
Glycogen storage disease IXa1 3 2 1 6
Glycogen storage disease, type VI 1 5 0 6
Leber congenital amaurosis 10 4 0 0 4
Leber congenital amaurosis 6 4 0 0 4
Progressive familial intrahepatic cholestasis type 2 2 2 0 4
Arthrogryposis, renal dysfunction, and cholestasis 1 0 2 0 2
Glycogen storage disease IXc 1 1 0 2
Joubert syndrome 3 2 0 0 2
Leber congenital amaurosis 8 2 0 0 2
Autosomal dominant nonsyndromic hearing loss 6 0 1 0 1
Fanconi anemia complementation group A 1 0 0 1
Intellectual disability, autosomal dominant 16 0 1 0 1
Neonatal intrahepatic cholestasis due to citrin deficiency 1 0 0 1
Senior-Loken syndrome 5 1 0 0 1

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