ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease, type 2

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
96 31 805 407 149 1412

Gene and significance breakdown #

Total genes and gene combinations: 18
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LMNA 65 12 114 54 18 258
KIF1B 0 0 126 74 34 213
MFN2 21 15 117 47 18 206
AARS 1 0 112 50 23 167
GARS 4 3 74 36 22 129
DYNC1H1 0 0 68 26 0 94
MED25 0 0 61 25 14 92
TRPV4 0 0 14 40 10 64
BSCL2, HNRNPUL2-BSCL2 5 1 37 13 4 60
LRSAM1 0 0 31 11 4 46
RAB7A 0 0 25 14 0 39
HSPB8 0 0 15 12 0 26
HSPB1 0 0 8 2 0 10
MED25, MIR6800 0 0 0 2 0 2
MFN2, PLOD1 0 0 0 0 2 2
MIR4497, TRPV4 0 0 1 1 0 2
COL12A1 0 0 1 0 0 1
LOC112872299, RAB7A 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 3
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 96 31 463 159 111 860
Illumina Clinical Services Laboratory,Illumina 0 0 357 253 43 652
Institute of Human Genetics,Cologne University 0 0 1 0 0 1

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