ClinVar Miner

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

Coded as:
Minimum submission review status: Collection method:
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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 total
184 58 512 275 38 1066

Gene and significance breakdown #

Total genes and gene combinations: 31
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign total
MPZ 99 39 188 85 4 415
EGR2 9 2 183 105 10 309
PMP22 67 17 91 72 16 262
NEFL 0 0 5 10 4 19
LITAF 0 0 7 2 1 10
SH3TC2 0 0 7 0 0 7
PRX 0 0 6 0 0 6
MIR4731, PMP22 5 0 0 0 0 5
DYNC1H1 0 0 4 0 0 4
MPZ, SDHC 0 0 1 0 2 3
AARS1 0 0 2 0 0 2
GDAP1 0 0 2 0 0 2
KIF1B 0 0 2 0 0 2
MORC2 0 0 2 0 0 2
SEPTIN9 0 0 2 0 0 2
ATF6, CFAP126, DUSP12, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSPA6, MPZ, SDHC 0 0 1 0 0 1
CDRT15, CDRT4, HS3ST3B1, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
CDRT15, HS3ST3B1, PMP22 1 0 0 0 0 1
CDRT4, PMP22, TEKT3, TVP23C, TVP23C-CDRT4 1 0 0 0 0 1
EGR2, JMJD1C, NRBF2 0 0 1 0 0 1
FIG4 0 0 1 0 0 1
GARS1 0 0 1 0 0 1
IGHMBP2 0 0 1 0 0 1
LOC130060307, MIR4731, PMP22 1 0 0 0 0 1
LOC130060307, PMP22 0 0 0 0 1 1
LOC130064454, PRX 0 0 1 0 0 1
LRSAM1 0 0 1 0 0 1
MFN2 0 0 1 0 0 1
MIR6841, NEFL 0 0 0 1 0 1
PLD3, PRX 0 0 1 0 0 1
TRPV4 0 0 1 0 0 1

Submitter and significance breakdown #

Total submitters: 5
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign total
Invitae 184 58 441 251 18 952
Illumina Laboratory Services, Illumina 0 0 34 24 18 76
Genesis Genome Database 0 0 40 0 0 40
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 1 0 5 6
Neuromuscular Department, Hannover Medical School 0 0 1 0 0 1

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