ClinVar Miner

Variants from Laboratory of Prof. Karen Avraham,Tel Aviv University

Location: Israel — Primary collection method: research
Minimum submission review status: Collection method:
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Gene type:
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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
45 0 0 0 0 45

Gene and significance breakdown #

Total genes and gene combinations: 22
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Gene or gene combination pathogenic total
MYO15A 7 7
TMC1 7 7
MYO7A 3 3
SLC26A4 3 3
STRC 3 3
TECTA 3 3
LOXHD1 2 2
TJP2 2 2
USH2A 2 2
CDH23, LOC111982869 1 1
CEACAM16 1 1
COCH, LOC100506071 1 1
EYA4 1 1
GATA3 1 1
GJB2 1 1
MITF 1 1
MYO6 1 1
OTOF 1 1
POU3F4 1 1
SYNE4 1 1
TBC1D24 1 1
WFS1 1 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic total
Deafness, autosomal recessive 3 7 7
Deafness, autosomal recessive 7 7 7
Deafness, autosomal dominant 12 3 3
Deafness, autosomal dominant 16 3 3
Enlarged vestibular aqueduct 3 3
Nonsyndromic hearing loss and deafness 3 3
Deafness, autosomal dominant 51 2 2
Deafness, autosomal recessive 12 2 2
Deafness, autosomal recessive 2 2 2
Deafness, autosomal recessive 77 2 2
Pendred syndrome 2 2
Barakat syndrome 1 1
DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss 1 1
Deafness, X-linked 2 1 1
Deafness, autosomal dominant 10 1 1
Deafness, autosomal dominant 11 1 1
Deafness, autosomal dominant 22 1 1
Deafness, autosomal dominant 9 1 1
Deafness, autosomal recessive 76 1 1
Deafness, autosomal recessive 86 1 1
Deafness, autosomal recessive 9 1 1
Waardenburg syndrome type 2A 1 1

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