ClinVar Miner

Variants from Institute for Human Genetics,University Clinic Freiburg

Location: Germany — 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
50 1 1 0 0 52

Gene and significance breakdown #

Total genes and gene combinations: 5
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
CYP4F22 43 0 0 43
SULT2B1 4 0 0 4
PORCN 1 0 1 2
SYNJ1 2 0 0 2
MITF 0 1 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance total
Autosomal recessive congenital ichthyosis 5 43 0 0 43
Autosomal recessive congenital ichthyosis 2 3 0 0 3
Focal dermal hypoplasia 1 0 1 2
Parkinson disease 20, early-onset 2 0 0 2
Autosomal recessive congenital ichthyosis 1 1 0 0 1
Waardenburg syndrome type 2 0 1 0 1

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