ClinVar Miner

Variants studied for Nonsyndromic Hearing Loss, Recessive

Coded as:
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 not provided total
0 0 1418 381 39 1 1838

Gene and significance breakdown #

Total genes and gene combinations: 36
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Gene or gene combination uncertain significance likely benign benign not provided total
CDH23 134 30 0 0 163
MYO15A 129 24 1 0 154
MYO7A 77 55 9 0 141
MYO6 50 49 4 0 103
LOXHD1 96 6 0 0 102
MYO3A 81 18 0 0 99
TECTA 68 27 4 0 99
PCDH15 85 10 0 0 95
OTOF 72 21 1 0 94
LHFPL5 68 9 0 0 77
RDX 65 4 0 0 69
WHRN 53 14 0 0 67
TMPRSS3 35 13 0 0 48
USH1C 35 10 1 0 46
ESRRB 38 6 1 0 45
SLC26A4 41 4 0 0 45
GJB2 7 19 14 1 41
ANAPC15, LRTOMT 29 2 0 0 31
TMC1 16 12 3 0 31
CLDN14 22 8 0 0 30
GJB6 26 4 0 0 30
MARVELD2 27 2 0 0 29
GPSM2 21 6 0 0 27
SLC26A5 26 1 0 0 27
CDH23, PSAP 15 8 0 0 23
PJVK 20 1 0 0 21
LRTOMT 19 1 0 0 20
GRXCR1 15 3 1 0 19
TMIE 16 3 0 0 19
C10orf105, CDH23 14 3 0 0 17
CLCC1, GPSM2 7 3 0 0 10
LRTOMT, NUMA1 7 0 0 0 7
PJVK, PRKRA 0 4 0 0 4
CDH23, LOC111982869 2 0 0 0 2
LOC101927870, SLC26A5 2 0 0 0 2
LOC105378311, PCDH15 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter uncertain significance likely benign benign not provided total
Illumina Clinical Services Laboratory,Illumina 1418 381 39 0 1837
GenomeConnect, ClinGen 0 0 0 1 1

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