ClinVar Miner

Variants from Pediatric Nephrology (Iijima Lab),Kobe University Graduate School of Medicine

Location: Japan — 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
1 0 0 0 1 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic benign total
EYA1 0 1 1
OCRL 1 0 1

Condition and significance breakdown #

Total conditions: 2
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Condition pathogenic benign total
Dent disease 2; Lowe syndrome 1 0 1
Melnick-Fraser syndrome 0 1 1

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