ClinVar Miner

Variants studied for Jeune thoracic dystrophy

Coded as:
Minimum submission review status: Collection method:
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Gene type:
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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
351 216 777 1968 176 3315

Gene and significance breakdown #

Total genes and gene combinations: 34
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
DYNC2H1 276 146 493 1768 144 2704
IFT80, TRIM59-IFT80 34 12 246 199 31 516
WDR19 10 9 9 0 0 19
TTC21B 0 5 10 1 1 15
IFT80 4 1 5 0 0 10
EVC2 4 5 1 0 0 5
IFT140, LOC105371046 4 4 0 0 0 4
WDR35 4 4 0 0 0 4
GRK2 1 2 0 0 0 3
C2CD3 0 0 2 0 0 2
DYNC2I1 2 2 0 0 0 2
DYNC2I2 2 2 0 0 0 2
DYNC2I2, LOC126860772 2 2 0 0 0 2
IFT43 0 1 2 0 0 2
IFT74 0 2 1 0 0 2
KIAA0753 1 1 0 0 0 2
LBR 2 2 0 0 0 2
RAB34 0 2 0 0 0 2
TRAF3IP1 2 2 0 0 0 2
ANGPTL5, BIRC2, BIRC3, CEP126, CFAP300, DCUN1D5, DYNC2H1, MMP1, MMP10, MMP12, MMP13, MMP20, MMP27, MMP3, MMP7, MMP8, TMEM123, TRPC6, YAP1 1 0 0 0 0 1
B9D1 0 0 1 0 0 1
DYNC2I2, SPTAN1 1 1 0 0 0 1
FLVCR1, LOC129932486 0 1 0 0 0 1
FUZ 0 1 1 0 0 1
IFT140 1 1 0 0 0 1
IFT52 0 1 1 0 0 1
IFT81 0 1 0 0 0 1
IFT88 0 1 1 0 0 1
INTU 0 1 1 0 0 1
INTU, LOC126807151 0 1 1 0 0 1
KIAA0586 0 1 0 0 0 1
LOC112939934, WDR19 0 0 1 0 0 1
NEK1 0 1 1 0 0 1
SLTM 0 1 0 0 0 1

Submitter and significance breakdown #

Total submitters: 6
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 276 101 662 1951 175 3165
Illumina Laboratory Services, Illumina 0 0 94 17 7 118
University of Washington Center for Mendelian Genomics, University of Washington 1 110 0 0 0 111
Dan Cohn Lab, University Of California Los Angeles 89 4 12 0 0 105
Rare Disease Group, Clinical Genetics, Karolinska Institutet 10 9 17 0 0 36
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 0 0 1

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