ClinVar Miner

Variants from National Institute on Deafness and Communication Disorders,National Institutes of Health

Location: United States — Primary collection method: research
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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
39 1 1 0 0 41

Gene and significance breakdown #

Total genes and gene combinations: 19
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYO15A 9 1 1 11
MYO7A 5 0 0 5
KCNE1 3 0 0 3
OTOF 3 0 0 3
TECTA 3 0 0 3
ILDR1 2 0 0 2
TMC1 2 0 0 2
ADGRV1 1 0 0 1
ESPN 1 0 0 1
GRXCR1 1 0 0 1
LHFPL5 1 0 0 1
MSRB3 1 0 0 1
PCDH15 1 0 0 1
PJVK 1 0 0 1
POU3F4 1 0 0 1
POU4F3 1 0 0 1
S1PR2 1 0 0 1
TMPRSS3 1 0 0 1
TRIOBP 1 0 0 1

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic uncertain significance total
Deafness, autosomal recessive 3 9 1 1 11
Deafness, autosomal recessive 2 5 0 0 5
Autosomal recessive sensorineural hearing loss 3 0 0 3
Deafness, autosomal recessive 21 3 0 0 3
Deafness, autosomal recessive 9 3 0 0 3
Jervell and Lange-Nielsen syndrome 2 3 0 0 3
Deafness, autosomal recessive 42 2 0 0 2
Deafness, autosomal recessive 7 2 0 0 2
Deafness, autosomal recessive 23 1 0 0 1
Deafness, autosomal recessive 25 1 0 0 1
Deafness, autosomal recessive 28 1 0 0 1
Deafness, autosomal recessive 36, with or without vestibular involvement 1 0 0 1
Deafness, autosomal recessive 59 1 0 0 1
Deafness, autosomal recessive 67 1 0 0 1
Deafness, autosomal recessive 68 1 0 0 1
Deafness, autosomal recessive 74 1 0 0 1
Deafness, autosomal recessive 8 1 0 0 1

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