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: rs1565930588
rs1565930588
HSPB8
0.882 0.160 12 119193787 frameshift variant TACTCAACATTTGG/- del
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 3 2016 2018
dbSNP: rs121908557
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 2 2004 2008
dbSNP: rs1057516031
rs1057516031
MTM1
1.000 0.080 X 150598681 stop gained G/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 1.000 1 2016 2016
dbSNP: rs104894294
rs104894294
RAPSN
1.000 11 47447853 missense variant G/A snv 2.0E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs104894299
rs104894299
RAPSN
0.827 0.120 11 47448079 missense variant G/T snv 1.6E-03 1.5E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518773
rs1057518773
RYR1
19 38505868 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant C/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518855
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518866
rs1057518866
DMD
X 32343174 stop gained A/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs111033570
rs111033570
TRIM32 ; ASTN2
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1198364572
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs121908188
rs121908188
SELENON
0.742 0.360 1 25809753 missense variant G/A;C snv 1.8E-04
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs121908627
rs121908627
CLTA ; GNE
0.925 0.160 9 36217448 missense variant C/A;T snv 8.9E-04; 1.7E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs121909092
rs121909092
DNM2
0.882 0.120 19 10793829 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs137854521
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs138058572
rs138058572
ACADVL ; MIR324
1.000 0.200 17 7223993 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs139552940
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
0.827 0.200 14 77027274 stop gained G/C snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1555420508
rs1555420508
CAPN3 ; LOC105370794
15 42387891 splice region variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1555606959
rs1555606959
TCAP
1.000 0.120 17 39665391 frameshift variant -/G delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1557182317
rs1557182317
EMD
0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0