ClinVar Miner

Variants from Hereditary Hearing Loss Research Unit,University of Madras

Location: India — 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 2 0 0 0 4

Gene and significance breakdown #

Total genes and gene combinations: 4
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Gene or gene combination pathogenic likely pathogenic total
GIPC3 0 1 1
PGK1 0 1 1
POLR2F, SOX10 1 0 1
SLC26A4 1 0 1

Condition and significance breakdown #

Total conditions: 4
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Condition pathogenic likely pathogenic total
Autosomal recessive non-syndromic sensorineural deafness type DFNB 1 0 1
Male infertility due to obstructive azoospermia 0 1 1
Sensorineural hearing loss 0 1 1
Waardenburg syndrome type 4A 1 0 1

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