ClinVar Miner

Variants studied for Charcot-Marie-Tooth disease type 4

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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 not provided total
305 75 2676 2273 220 1 5527

Gene and significance breakdown #

Total genes and gene combinations: 37
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign benign not provided total
SH3TC2 83 15 495 401 47 0 1036
PRX 45 5 570 338 38 0 994
FIG4 64 17 329 313 32 1 755
SBF2 26 6 340 275 24 0 670
NDRG1 17 9 194 320 11 0 541
FGD4 28 4 219 171 21 0 443
MTMR2 21 6 188 165 23 0 402
LOC101928008, SBF2 8 3 186 139 11 0 346
LOC105369149, SBF2 4 5 83 78 7 0 177
LOC126860531, NDRG1 1 3 23 49 3 0 78
LOC130064454, PRX 1 0 20 17 1 0 39
LOC130005303, SBF2 1 0 5 6 0 0 12
LOC126807546, SH3TC2 0 0 2 0 1 0 3
MFN2 0 0 3 0 0 0 3
PLD3, PRX 2 0 1 0 1 0 3
HSPB1 0 0 2 0 0 0 2
KIF1B 0 0 2 0 0 0 2
TRPV4 0 0 2 0 0 0 2
AFG1L, AK9, ARMC2, BEND3, CD164, CEP57L1, FIG4, FOXO3, MICAL1, MTRES1, NR2E1, OSTM1, PDSS2, PPIL6, QRSL1, RTN4IP1, SCML4, SEC63, SESN1, SMPD2, SNX3, SOBP, ZBTB24 1 0 0 0 0 0 1
AK9, CD164, FIG4, MICAL1, PPIL6, SMPD2, ZBTB24 0 0 1 0 0 0 1
AK9, FIG4, MICAL1, ZBTB24 0 0 1 0 0 0 1
CCN4, DNAAF11, KCNQ3, NDRG1, PHF20L1, SLA, TG, TMEM71 0 0 1 0 0 0 1
CCN4, NDRG1, SLA, TG 1 0 0 0 0 0 1
DNM1L, FGD4 0 0 1 0 0 0 1
DYNC1H1 0 0 1 0 0 0 1
GDAP1, LOC130000622 0 0 1 0 0 0 1
IGHMBP2, LOC126861245 0 0 1 0 0 0 1
LOC101928008, LOC105369149, LOC126861136, LOC130005300, SBF2 0 1 0 0 0 0 1
LOC114004390, SH3TC2 1 0 0 0 0 0 1
LOC126861137, SBF2 0 0 1 0 0 0 1
LOC130064453, LOC130064454, LOC130064455, PRX 0 0 1 0 0 0 1
LOC130064453, LOC130064454, PRX 1 0 0 0 0 0 1
LOC130064453, PRX 0 0 0 1 0 0 1
LRSAM1 0 0 1 0 0 0 1
MORC2 0 0 1 0 0 0 1
SBF1 0 1 0 0 0 0 1
SEPTIN9 0 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 not provided total
Invitae 305 74 2575 2263 214 0 5431
Illumina Laboratory Services, Illumina 0 0 70 9 6 0 84
Natera, Inc. 1 0 25 6 5 0 37
Genesis Genome Database 0 0 24 0 0 0 24
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1 0 0 0 0 1
GenomeConnect - Invitae Patient Insights Network 0 0 0 0 0 1 1

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