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: 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: 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: rs1198364572
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins
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: 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
dbSNP: rs1563221666
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs199474699
rs199474699
CYTB ; ND6 ; TRNP
MT 15990 non coding transcript exon variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs199476140
rs199476140
COX1 ; ND1 ; ND2 ; TRNQ
MT 4365 non coding transcript exon variant -/A delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs543860009
rs543860009
TTN ; TTN-AS1
0.742 0.320 2 178589003 stop gained G/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045477
rs797045477
COL6A1
21 45990771 splice acceptor variant A/G snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
21 46116045 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045479
rs797045479
COL6A3
2 237361150 stop gained G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045730
rs797045730
MYH7 ; MHRT
14 23416071 missense variant A/G snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045931
rs797045931
RYR1
19 38457580 frameshift variant TGGCC/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0