ClinVar Miner

Variants from Inserm U 954, Faculté de Médecine de Nancy

Location: France — Primary collection method: not provided
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 not provided total
0 44 0 4 0 23 71

Gene and significance breakdown #

Total genes and gene combinations: 16
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Gene or gene combination likely pathogenic likely benign not provided total
PAH 44 4 1 49
CBLIF 0 0 3 3
MTHFR 0 0 3 3
AMN 0 0 2 2
MMACHC 0 0 2 2
TCN2 0 0 2 2
BHMT 0 0 1 1
CBS 0 0 1 1
CUBN 0 0 1 1
CYP26A1 0 0 1 1
DVL1 0 0 1 1
GLI3 0 0 1 1
MMAA 0 0 1 1
MMAB 0 0 1 1
MTHFD1 0 0 1 1
SLC6A19 0 0 1 1

Condition and significance breakdown #

Total conditions: 9
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Condition likely pathogenic likely benign not provided total
Phenylketonuria 44 4 1 49
not provided 0 0 6 6
Homocysteinemia due to MTHFR deficiency 0 0 3 3
Intrinsic factor deficiency 0 0 3 3
Megaloblastic anemia due to inborn errors of metabolism 0 0 3 3
Methylmalonic acidemia with homocystinuria 0 0 2 2
Methylmalonic aciduria cblB type 0 0 2 2
Transcobalamin II deficiency 0 0 2 2
Homocystinuria due to CBS deficiency 0 0 1 1

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