ClinVar Miner

Variants from Institute of Rare Diseases, West China Hospital, Sichuan University

Location: China  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:

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
510 521 0 0 0 1031

Gene and significance breakdown #

Total genes and gene combinations: 105
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Gene or gene combination pathogenic likely pathogenic total
MYO15A 60 91 151
SLC26A4 40 32 72
MYO7A 34 35 69
POLR2F, SOX10 44 17 61
CDH23 18 38 56
POU3F4 37 9 46
TMC1 24 18 42
MITF 25 15 40
OTOF 21 18 39
PCDH15 17 14 31
EYA1 8 19 27
PAX3 16 10 26
LOXHD1 5 13 18
MARVELD2 7 7 14
TRIOBP 11 2 13
USH1C 7 6 13
TMPRSS3 5 7 12
POU4F3, RBM27-POU4F3 2 9 11
GJB2 5 5 10
USH2A 8 2 10
LARS2 5 4 9
CIB2 6 1 7
COL11A2 3 4 7
PTPRQ 4 3 7
TBCEL-TECTA, TECTA 6 1 7
USH1G 5 2 7
CDH23, LOC111982869 2 4 6
CHD7 2 4 6
COCH 0 6 6
GIPC3 0 6 6
ILDR1 4 2 6
MYO6 1 5 6
TIMM8A 6 0 6
ADGRV1 0 5 5
AIFM1, RAB33A 0 5 5
ANAPC15, LRTOMT, TOMT 2 3 5
C10orf105, CDH23 2 3 5
CLRN1 2 3 5
EPS8 3 2 5
EPS8L2 3 2 5
EYA4 0 5 5
GREB1L 3 2 5
LOC112840921, OTOF 2 3 5
LRTOMT, TOMT 3 2 5
OTOGL 1 4 5
PJVK 3 2 5
TBC1D24 1 4 5
CLDN14 4 0 4
COL1A1 1 3 4
GATA3 1 3 4
GREB1L, LOC101927521 2 2 4
HARS2 1 3 4
LHFPL5 2 2 4
SLC12A2 0 4 4
CLPP 2 1 3
ESRRB 0 3 3
FGF3 0 3 3
LOC123956210, SLC26A4 2 1 3
LOC126806529, PAX3 1 2 3
LOC130060418, MYO15A 2 1 3
MYO3A 1 2 3
OTOA 0 3 3
TWNK 1 2 3
ACTG1 0 2 2
ATP6V1B2 0 2 2
EDNRB 0 2 2
ESPN 2 0 2
EYA4, TARID 0 2 2
FGF3, LOC109115964 1 1 2
GRHL2 0 2 2
GRXCR1 2 0 2
KCNQ4 0 2 2
MPZL2 2 0 2
MSRB3 0 2 2
PDZD7 1 1 2
PRPS1 0 2 2
SMPX 2 0 2
STRC 1 1 2
TMIE 1 1 2
WHRN 1 1 2
ABHD12, LOC126863008 1 0 1
BCS1L 0 1 1
CCDC140, LOC107980445, PAX3 0 1 1
CCDC140, PAX3 1 0 1
CEP290 1 0 1
CEP290, LOC129390514, LOC130008346, RLIG1 1 0 1
CLIC5 1 0 1
COL4A3, MFF-DT 1 0 1
COL4A5 1 0 1
DIABLO 0 1 1
EYA4, LOC126859796, TARID 0 1 1
GATA3, LOC130003278 0 1 1
GRXCR2 0 1 1
HOMER2 0 1 1
KCNE1 1 0 1
KCNQ1 1 0 1
LMX1A 0 1 1
LOC126861365, TBCEL-TECTA, TECTA 1 0 1
LOC129933334, OTOF 0 1 1
LOC129933336, OTOF 1 0 1
OTOG 1 0 1
PEX6 1 0 1
TCOF1 0 1 1
TPRN 1 0 1
WFS1 0 1 1

Condition and significance breakdown #

Total conditions: 95
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Condition pathogenic likely pathogenic total
Autosomal recessive nonsyndromic hearing loss 3 62 92 154
Autosomal recessive nonsyndromic hearing loss 4 42 33 75
Autosomal recessive nonsyndromic hearing loss 12 18 45 63
Autosomal recessive nonsyndromic hearing loss 2 27 35 62
Waardenburg syndrome type 4C 44 17 61
Autosomal recessive nonsyndromic hearing loss 9 24 22 46
X-linked mixed hearing loss with perilymphatic gusher 37 9 46
Autosomal recessive nonsyndromic hearing loss 7 24 18 42
Waardenburg syndrome type 2A 25 15 40
Waardenburg syndrome type 1 18 13 31
Autosomal recessive nonsyndromic hearing loss 23 16 14 30
Branchiootorenal syndrome 1 8 19 27
Autosomal recessive nonsyndromic hearing loss 77 5 13 18
Autosomal recessive nonsyndromic hearing loss 49 7 7 14
Autosomal recessive nonsyndromic hearing loss 28 11 2 13
Autosomal recessive nonsyndromic hearing loss 8 5 7 12
Autosomal dominant nonsyndromic hearing loss 15 2 9 11
Autosomal recessive nonsyndromic hearing loss 18A 4 6 10
Autosomal recessive nonsyndromic hearing loss 1A 5 5 10
Autosomal recessive nonsyndromic hearing loss 63 5 5 10
Usher syndrome type 2A 8 2 10
Hearing loss, autosomal dominant 80 5 4 9
Perrault syndrome 4 5 4 9
Autosomal dominant nonsyndromic hearing loss 10 0 8 8
Autosomal recessive nonsyndromic hearing loss 21 7 1 8
Autosomal recessive nonsyndromic hearing loss 48 6 1 7
Autosomal recessive nonsyndromic hearing loss 84A 4 3 7
Usher syndrome type 1G 5 2 7
Autosomal dominant nonsyndromic hearing loss 9 0 6 6
Autosomal recessive nonsyndromic hearing loss 15 0 6 6
Autosomal recessive nonsyndromic hearing loss 42 4 2 6
Autosomal recessive nonsyndromic hearing loss 53 3 3 6
CHARGE syndrome 2 4 6
Deafness dystonia syndrome 6 0 6
Usher syndrome type 1 6 0 6
Autosomal recessive nonsyndromic hearing loss 102 3 2 5
Autosomal recessive nonsyndromic hearing loss 37 1 4 5
Autosomal recessive nonsyndromic hearing loss 59 3 2 5
Autosomal recessive nonsyndromic hearing loss 84B 1 4 5
Autosomal recessive nonsyndromic hearing loss 86 1 4 5
Deafness with labyrinthine aplasia, microtia, and microdontia 1 4 5
Deafness, X-linked 5 0 5 5
Hearing loss, autosomal recessive 106 3 2 5
Hypoparathyroidism, deafness, renal disease syndrome 1 4 5
Usher syndrome type 2C 0 5 5
Usher syndrome type 3A 2 3 5
Autosomal recessive nonsyndromic hearing loss 29 4 0 4
Autosomal recessive nonsyndromic hearing loss 67 2 2 4
Osteogenesis imperfecta with normal sclerae, dominant form 1 3 4
Perrault syndrome 2 1 3 4
Usher syndrome type 1D 4 0 4
Autosomal recessive nonsyndromic hearing loss 22 0 3 3
Autosomal recessive nonsyndromic hearing loss 30 1 2 3
Autosomal recessive nonsyndromic hearing loss 35 0 3 3
Perrault syndrome 3 2 1 3
Perrault syndrome 5 1 2 3
Usher syndrome type 1C 3 0 3
Autosomal dominant deafness - onychodystrophy syndrome 0 2 2
Autosomal dominant nonsyndromic hearing loss 20 0 2 2
Autosomal dominant nonsyndromic hearing loss 28 0 2 2
Autosomal dominant nonsyndromic hearing loss 2A 0 2 2
Autosomal recessive nonsyndromic hearing loss 16 1 1 2
Autosomal recessive nonsyndromic hearing loss 25 2 0 2
Autosomal recessive nonsyndromic hearing loss 31 1 1 2
Autosomal recessive nonsyndromic hearing loss 36 2 0 2
Autosomal recessive nonsyndromic hearing loss 6 1 1 2
Autosomal recessive nonsyndromic hearing loss 74 0 2 2
Hearing loss, X-linked 1 0 2 2
Hearing loss, X-linked 4 2 0 2
Hearing loss, autosomal dominant 78 0 2 2
Hearing loss, autosomal recessive 111 2 0 2
Hearing loss, autosomal recessive 57 1 1 2
Jervell and Lange-Nielsen syndrome 1 2 0 2
Leber congenital amaurosis 10 2 0 2
Waardenburg syndrome type 4A 0 2 2
Autosomal dominant nonsyndromic hearing loss 11 1 0 1
Autosomal dominant nonsyndromic hearing loss 13 0 1 1
Autosomal dominant nonsyndromic hearing loss 22 0 1 1
Autosomal dominant nonsyndromic hearing loss 6 0 1 1
Autosomal dominant nonsyndromic hearing loss 64 0 1 1
Autosomal dominant nonsyndromic hearing loss 68 0 1 1
Autosomal dominant nonsyndromic hearing loss 7 0 1 1
Autosomal recessive Alport syndrome 1 0 1
Autosomal recessive nonsyndromic hearing loss 101 0 1 1
Autosomal recessive nonsyndromic hearing loss 103 1 0 1
Autosomal recessive nonsyndromic hearing loss 18B 1 0 1
Autosomal recessive nonsyndromic hearing loss 79 1 0 1
Delpire-McNeill syndrome 0 1 1
PHARC syndrome 1 0 1
Peroxisome biogenesis disorder 4B 1 0 1
Pili torti-deafness syndrome 0 1 1
SLC12A2-related disorder 0 1 1
Treacher Collins syndrome 1 0 1 1
Usher syndrome type 1F 1 0 1
X-linked Alport syndrome 1 0 1

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