ClinVar Miner

Variants studied for Autosomal recessive nonsyndromic hearing loss 1A; Mutilating keratoderma; Ichthyosis, hystrix-like, with hearing loss; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Autosomal dominant nonsyndromic hearing loss 3A

Coded as:
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 0 0 0 0 1 1

Gene and significance breakdown #

Total genes and gene combinations: 1
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Gene or gene combination not provided total
GJB2 1 1

Submitter and significance breakdown #

Total submitters: 1
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Submitter not provided total
GenomeConnect - Brain Gene Registry 1 1

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