ClinVar Miner

Variants from Unité médicale des maladies autoinflammatoires, CHRU Montpellier

Location: France — Primary collection method: not provided
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 0 0 0 638 638

Gene and significance breakdown #

Total genes and gene combinations: 13
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Gene or gene combination not provided total
MEFV 150 150
NLRP3 98 98
MVK 90 90
TNFRSF1A 86 86
NOD2 80 80
NCR1, NLRP7 69 69
NLRP7 41 41
NLRP12 8 8
LPIN2 7 7
IL1RN 4 4
KIR3DL1, NLRP7 1 1

Condition and significance breakdown #

Total conditions: 9
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Condition not provided total
Familial Mediterranean fever 150 150
Hydatidiform mole, recurrent, 1 111 111
Familial cold urticaria 98 98
Hyperimmunoglobulin D with periodic fever 91 91
TNF receptor-associated periodic fever syndrome (TRAPS) 85 85
Blau syndrome 80 80
not provided 13 13
Majeed syndrome 7 7
Pyogenic arthritis, pyoderma gangrenosum and acne 3 3

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