ClinVar Miner

Variants from Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town

Location: South Africa  Primary collection method: research
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
2 1 0 0 0 3

Gene and significance breakdown #

Total genes and gene combinations: 3
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Gene or gene combination pathogenic likely pathogenic total
KIZ, LOC130065507 1 0 1
MYO7A 1 0 1
RRM2B 0 1 1

Condition and significance breakdown #

Total conditions: 3
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Condition pathogenic likely pathogenic total
Retinitis pigmentosa 69 1 0 1
Sensorineural hearing loss disorder; Rod-cone dystrophy; Renal Fanconi syndrome 0 1 1
Usher syndrome type 1 1 0 1

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