ClinVar Miner

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

Location: United States  Primary collection method: research
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
64 6 26 0 0 96

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance total
MYO15A 9 2 6 17
CDH23 3 1 4 8
USH2A 6 0 2 8
MYO7A 5 0 2 7
LRP2 2 2 2 6
ADGRV1 5 0 0 5
OTOF 3 0 2 5
ILDR1 4 0 0 4
KCNE1 3 0 0 3
PCDH15 3 0 0 3
CHD7 0 0 2 2
CLRN1 2 0 0 2
COL11A1 0 0 2 2
TBCEL-TECTA, TECTA 2 0 0 2
TMC1 2 0 0 2
TMPRSS3 2 0 0 2
CIB2 0 1 0 1
CLPP 1 0 0 1
ESPN 1 0 0 1
GRXCR1 1 0 0 1
LHFPL5 1 0 0 1
LOC105378311, PCDH15 1 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 1 0 0 1
LOC127814297, POU4F3 1 0 0 1
MAP3K1 0 0 1 1
MSRB3 1 0 0 1
OPA1 0 0 1 1
PJVK 1 0 0 1
POU3F4 1 0 0 1
S1PR2 1 0 0 1
SPTLC1 0 0 1 1
TBC1D24 1 0 0 1
TRIOBP 1 0 0 1
WFS1 0 0 1 1

Condition and significance breakdown #

Total conditions: 27
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Condition pathogenic likely pathogenic uncertain significance total
Childhood onset hearing loss 7 3 22 32
Autosomal recessive nonsyndromic hearing loss 3 9 1 1 11
Usher syndrome type 2A 10 0 0 10
Autosomal recessive nonsyndromic hearing loss 2 5 0 0 5
Hearing impairment 2 2 0 4
Autosomal recessive nonsyndromic hearing loss 21 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 9 3 0 0 3
Autosomal recessive sensorineural hearing loss 3 0 0 3
Jervell and Lange-Nielsen syndrome 2 3 0 0 3
Autosomal recessive nonsyndromic hearing loss 42 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 7 2 0 0 2
Hearing loss and Retinal dystrophy 0 0 2 2
Usher syndrome type 3 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 23 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 25 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 28 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 36 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 59 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 67 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 68 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 74 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 8 1 0 0 1
Autosomal recessive nonsyndromic hearing loss 86 1 0 0 1
Hearing loss 0 0 1 1
Perrault syndrome 1 1 0 0 1
Usher syndrome type 1D 1 0 0 1

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