ClinVar Miner

Variants from The Shared Resource Centre "Genome", Research Centre for Medical Genetics

Location: Russian Federation  Primary collection method: clinical testing
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
36 21 0 0 0 57

Gene and significance breakdown #

Total genes and gene combinations: 20
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Gene or gene combination pathogenic likely pathogenic total
MYO7A 4 4 8
SLC26A4 5 2 7
USH2A 5 2 7
OTOF 2 3 5
STRC 3 1 4
TMPRSS3 4 0 4
FRMD5, STRC 3 0 3
ADGRV1 0 2 2
MYO15A 1 1 2
POU3F4 1 1 2
PTPRQ 1 1 2
TBCEL-TECTA, TECTA 2 0 2
TMC1 1 1 2
IGSF6, LOC130058625, LOC130058626, LOC130058627, METTL9, OTOA 1 0 1
LOC112840921, OTOF 0 1 1
LOC122152296, USH2A 1 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 1
OTOA 0 1 1
RREB1 1 0 1
TRA2B 1 0 1

Condition and significance breakdown #

Total conditions: 17
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Condition pathogenic likely pathogenic total
Usher syndrome type 2A 6 2 8
Autosomal recessive nonsyndromic hearing loss 16 6 1 7
Autosomal recessive nonsyndromic hearing loss 4 5 2 7
Autosomal recessive nonsyndromic hearing loss 2 2 4 6
Autosomal recessive nonsyndromic hearing loss 9 2 4 6
Autosomal recessive nonsyndromic hearing loss 8 4 0 4
Autosomal dominant nonsyndromic hearing loss 11 2 0 2
Autosomal recessive nonsyndromic hearing loss 21 1 1 2
Autosomal recessive nonsyndromic hearing loss 22 1 1 2
Autosomal recessive nonsyndromic hearing loss 3 1 1 2
Autosomal recessive nonsyndromic hearing loss 7 1 1 2
Autosomal recessive nonsyndromic hearing loss 84A 1 1 2
Usher syndrome type 2C 0 2 2
X-linked mixed hearing loss with perilymphatic gusher 1 1 2
Autosomal dominant nonsyndromic hearing loss 12 1 0 1
RREB1-associated Noonan-like syndrome 1 0 1
TRA2B-associated epileptic encephalopathy 1 0 1

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