ClinVar Miner

Variants from ClinGen Hearing Loss Variant Curation Expert Panel

Location: United States  Primary collection method: curation
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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
42 46 52 27 27 194

Gene and significance breakdown #

Total genes and gene combinations: 15
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
USH2A 12 7 14 7 5 45
MYO7A 2 13 10 2 2 29
SLC26A4 6 7 4 3 5 25
GJB2 8 7 9 0 0 24
CDH23 3 1 9 1 2 16
MYO15A 4 4 1 3 2 14
OTOF 2 4 2 2 2 12
TBCEL-TECTA, TECTA 1 0 0 7 2 10
COCH, LOC100506071 1 0 1 0 3 5
MYO6 1 1 0 1 2 5
KCNQ4 2 1 0 1 0 4
C10orf105, CDH23 0 0 1 0 1 2
LOC112840921, OTOF 0 0 1 0 0 1
LOC122152296, USH2A 0 0 0 0 1 1
LOC123956210, SLC26A4 0 1 0 0 0 1

Condition and significance breakdown #

Total conditions: 8
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Condition pathogenic likely pathogenic uncertain significance likely benign benign total
Nonsyndromic genetic hearing loss 21 18 19 14 15 87
Usher syndrome 14 16 28 10 7 75
Pendred syndrome 6 8 4 3 5 26
Autosomal recessive nonsyndromic hearing loss 9 0 2 0 0 0 2
Sensorineural hearing loss disorder 1 0 0 0 0 1
Usher syndrome type 1 0 1 0 0 0 1
Usher syndrome type 1B 0 1 0 0 0 1
not specified 0 0 1 0 0 1

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