ClinVar Miner

Variants studied for obsolete rare genetic deafness

Included ClinVar conditions (7):
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
490 312 10 0 2 814

Gene and significance breakdown #

Total genes and gene combinations: 93
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Gene or gene combination pathogenic likely pathogenic uncertain significance benign total
MYO7A 60 45 0 0 105
USH2A 74 24 0 0 98
GJB2 44 19 0 0 63
SLC26A4 42 19 1 0 62
MYO15A 28 20 2 0 50
CDH23 22 10 3 0 35
STRC 24 7 1 0 32
ADGRV1 24 3 0 0 27
OTOF 12 15 0 0 27
OTOG 4 19 0 0 23
OTOGL 7 15 0 0 22
TMC1 12 4 0 0 16
EYA1 12 3 0 0 15
TMPRSS3 8 6 0 0 14
LOXHD1 7 4 1 0 12
MYO6 4 8 0 0 12
TBCEL-TECTA, TECTA 3 9 0 0 12
PCDH15 10 1 0 0 11
WFS1 9 2 0 0 11
OTOA 9 1 0 0 10
POU3F4 3 4 0 0 7
ESRRB 0 6 0 0 6
MYO3A 0 5 1 0 6
TRIOBP 1 5 0 0 6
CLRN1 4 1 0 0 5
GPSM2 4 1 0 0 5
KCNQ4 3 2 0 0 5
LOC123956210, SLC26A4 3 2 0 0 5
MITF 5 0 0 0 5
PAX3 4 1 0 0 5
C10orf105, CDH23 4 0 0 0 4
EYA4 1 3 0 0 4
GIPC3 2 2 0 0 4
POLR2F, SOX10 2 2 0 0 4
ACTG1 0 3 0 0 3
CDH23, LOC111982869 2 1 0 0 3
COCH, LOC100506071 2 1 0 0 3
COL11A2 0 3 0 0 3
LARS2 1 2 0 0 3
LOC122152296, USH2A 3 0 0 0 3
MARVELD2 2 1 0 0 3
TPRN 1 2 0 0 3
CATSPER2 0 0 0 2 2
ESPN 0 2 0 0 2
GRXCR1 1 1 0 0 2
GSDME 1 1 0 0 2
LOC130003093, TPRN 0 2 0 0 2
LOC130058627, OTOA 2 0 0 0 2
LRTOMT, TOMT 1 1 0 0 2
SYNE4 0 2 0 0 2
TMIE 0 2 0 0 2
USH1C 2 0 0 0 2
WHRN 2 0 0 0 2
ADGRV1, LOC129994207, LOC129994208 1 0 0 0 1
ATP6V1B1 1 0 0 0 1
CATSPER2, LOC130056948, LOC130056949 1 0 0 0 1
CATSPER2, LOC130056949 1 0 0 0 1
CCDC140, LOC107980445, PAX3 1 0 0 0 1
CDC14A 0 1 0 0 1
CEACAM16 0 1 0 0 1
CIB2 1 0 0 0 1
COL4A5 0 1 0 0 1
DIAPH1 1 0 0 0 1
EDNRB 1 0 0 0 1
ESRRB, LOC130056147, LOC130056148 0 1 0 0 1
EYA1, LOC130000578, LOC130000579, LOC130000580, LOC130000581, LOC130000582 1 0 0 0 1
EYA4, TARID 0 1 0 0 1
GAA 0 1 0 0 1
HSD17B4 0 1 0 0 1
ILDR1 1 0 0 0 1
KCNE1 0 1 0 0 1
KCNQ1 0 1 0 0 1
LHFPL5 0 1 0 0 1
LOC105378311, MIR548F1, PCDH15 1 0 0 0 1
LOC107988030, MITF 1 0 0 0 1
LOC112840921, OTOF 0 0 1 0 1
LOC126806529, PAX3 1 0 0 0 1
LOC126861365, TBCEL-TECTA, TECTA 0 1 0 0 1
LOC127814297, POU4F3 0 1 0 0 1
LOC129933334, OTOF 1 0 0 0 1
LRRC51, LRTOMT 0 1 0 0 1
MSRB3 0 1 0 0 1
MT-ND1, MT-RNR1 1 0 0 0 1
MT-RNR1 0 1 0 0 1
MT-RNR1, MT-TS1 0 1 0 0 1
MT-TS1 1 0 0 0 1
MYH9 1 0 0 0 1
PDZD7 0 1 0 0 1
PJVK 1 0 0 0 1
RDX 1 0 0 0 1
SERPINB6 0 1 0 0 1
TBC1D24 0 1 0 0 1
USH1G 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic likely pathogenic uncertain significance benign total
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 490 312 10 0 812
Mendelics 0 0 0 2 2

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