Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
0.882 0.120 MT 9185 missense variant T/C snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2012 2012
dbSNP: rs1555937009
rs1555937009
GJB1
1.000 0.080 X 71223757 missense variant C/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs690016543
rs690016543
SBF1
0.925 0.080 22 50465006 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs199927590
rs199927590
DNM2
1.000 0.080 19 10797424 missense variant A/G snv 1.1E-04 1.0E-04
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs145770066
rs145770066
MED25 ; MIR6800
0.882 0.080 19 49830790 missense variant C/T snv 3.8E-03 4.3E-03
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2009 2009
dbSNP: rs113994102
rs113994102
CTDP1
0.925 0.160 18 79710825 intron variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2005 2005
dbSNP: rs864622180
rs864622180
PMP22
0.925 0.080 17 15259134 frameshift variant G/- delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs267606621
rs267606621
AARS1
0.882 0.080 16 70268356 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2012 2012
dbSNP: rs797044801
rs797044801
AARS1
1.000 0.080 16 70254688 missense variant T/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs387906738
rs387906738
DYNC1H1
0.882 0.080 14 101980506 missense variant A/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2011 2011
dbSNP: rs587781253
rs587781253
DYNC1H1
1.000 0.080 14 101985925 missense variant G/A snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 1.000 1 2014 2014
dbSNP: rs104894345
rs104894345
HSPB8 ; LOC107984440
0.827 0.080 12 119187080 missense variant G/C;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.720 1.000 0 2006 2017
dbSNP: rs104894351
rs104894351
HSPB8 ; LOC107984440
0.827 0.080 12 119187078 missense variant A/C;G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2006 2006
dbSNP: rs267607143
rs267607143
TRPV4
0.851 0.080 12 109798823 missense variant G/A snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267607144
rs267607144
TRPV4
0.716 0.360 12 109800665 missense variant C/T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267607145
rs267607145
TRPV4
0.882 0.080 12 109798820 missense variant G/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs267607146
rs267607146
TRPV4
0.851 0.080 12 109800666 missense variant G/A;T snv 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs781249411
rs781249411
MARS1
0.925 0.080 12 57515926 missense variant C/A snv 3.6E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs137852667
rs137852667
IGHMBP2
0.882 0.120 11 68935404 missense variant G/A snv 4.4E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs372000714
rs372000714
IGHMBP2
0.882 0.120 11 68906120 stop gained T/A snv 1.6E-05 7.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs724159958
rs724159958
IGHMBP2
0.925 0.080 11 68911496 missense variant T/G snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs724159994
rs724159994
IGHMBP2
0.882 0.120 11 68939658 frameshift variant AG/- delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs797044802
rs797044802
IGHMBP2
0.882 0.120 11 68908338 splice donor variant G/A;T snv 4.0E-06
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs797044803
rs797044803
IGHMBP2
1.000 0.080 11 68938355 splice donor variant G/T snv 2.1E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0
dbSNP: rs121918312
rs121918312
BAG3
0.776 0.160 10 119672373 missense variant C/A;T snv
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0