ClinVar Miner

Variants from Hereditary Research Laboratory,Bethlehem University

Location: Palestine, State of — Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
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
49 0 0 0 0 49

Gene and significance breakdown #

Total genes and gene combinations: 23
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Gene or gene combination pathogenic total
CDH23 7 7
MYO7A 6 6
SLC26A4 6 6
MYO15A 4 4
TRIOBP 3 3
ADGRV1 2 2
ESRRB 2 2
GPSM2 2 2
OTOF 2 2
TMC1 2 2
CACNA1D 1 1
LHFPL5 1 1
LOXHD1 1 1
MYH9 1 1
MYO6 1 1
OTOA 1 1
PAX3 1 1
PCDH15 1 1
POU3F4 1 1
PTRH2 1 1
TECTA 1 1
TMPRSS3 1 1
USH1G 1 1

Condition and significance breakdown #

Total conditions: 22
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Condition pathogenic total
Deafness, autosomal recessive 12 7 7
Deafness, autosomal recessive 2 6 6
Pendred syndrome 6 6
Deafness, autosomal recessive 3 4 4
Autosomal recessive non-syndromic sensorineural deafness type DFNB 3 3
Deafness, autosomal recessive 28 3 3
Deafness, autosomal recessive 35 2 2
Deafness, autosomal recessive 7 2 2
Deafness, autosomal recessive 9 2 2
Usher syndrome, type 2C 2 2
Deafness, X-linked 2 1 1
Deafness, autosomal dominant 22 1 1
Deafness, autosomal recessive 21 1 1
Deafness, autosomal recessive 22 1 1
Deafness, autosomal recessive 23 1 1
Deafness, autosomal recessive 67 1 1
Deafness, autosomal recessive 77 1 1
Deafness, autosomal recessive 8 1 1
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 1
Sinoatrial node dysfunction and deafness 1 1
Usher syndrome, type 1G 1 1
Waardenburg syndrome type 1 1 1

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