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
134 39 966 302 47 1483

Gene and significance breakdown #

Total genes and gene combinations: 21
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
LMNA 90 21 145 19 5 279
MFN2 31 14 144 38 2 228
KIF1B 0 0 141 56 9 206
AARS1 2 0 146 30 2 180
GARS1 4 3 91 32 13 141
MED25 0 0 85 12 0 97
DYNC1H1 0 0 68 26 0 94
TRPV4 0 0 14 40 10 64
BSCL2, HNRNPUL2-BSCL2 6 1 47 7 0 61
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 1 2 0 3
MFN2, PLOD1 0 0 0 0 2 2
MIR4497, TRPV4 0 0 1 1 0 2
AARS1, COG4, DDX19A, DDX19B, FCSK, IL34, LOC100506083, LOC112486204, SF3B3, SNORD111, SNORD111B, ST3GAL2 0 0 1 0 0 1
ARHGEF2, KHDC4, LAMTOR2, LMNA, LOC110121262, MEX3A, MIR6738, RAB25, RIT1, RXFP4, SCARNA4, SNORA80E, SSR2, UBQLN4 0 0 1 0 0 1
BGLAP, LMNA, LOC110013312, PMF1, PMF1-BGLAP, SEMA4A, SLC25A44 1 0 0 0 0 1
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 134 39 622 49 4 848
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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