ClinVar Miner

Variants from INGEBI, INGEBI / CONICET

Location: Argentina  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
46 6 13 4 8 77

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
GJB2 25 4 9 4 5 47
CDH23 1 1 0 0 1 3
COL4A5 1 0 2 0 0 3
ADGRV1 2 0 0 0 0 2
COL4A3, MFF-DT 1 0 1 0 0 2
LARS2 2 0 0 0 0 2
MYO7A 2 0 0 0 0 2
TMPRSS3 2 0 0 0 0 2
USH2A 2 0 0 0 0 2
WFS1 0 1 0 0 1 2
ACTG1 1 0 0 0 0 1
C10orf105, CDH23 1 0 0 0 0 1
CRYL1, GJB6 1 0 0 0 0 1
EYA4 1 0 0 0 0 1
GSDME 0 0 0 0 1 1
LOXHD1 1 0 0 0 0 1
MITF 1 0 0 0 0 1
MYO6 0 0 1 0 0 1
STRC 1 0 0 0 0 1
TBCEL-TECTA, TECTA 1 0 0 0 0 1

Condition and significance breakdown #

Total conditions: 6
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nonsyndromic genetic hearing loss 38 6 12 4 8 68
Autosomal dominant Alport syndrome 1 0 1 0 0 2
Hereditary palmoplantar keratoderma; Nonsyndromic genetic hearing loss 2 0 0 0 0 2
Usher syndrome type 1D 2 0 0 0 0 2
Usher syndrome type 2C 2 0 0 0 0 2
X-linked Alport syndrome 1 0 0 0 0 1

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