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: rs137854521
rs137854521
ANO5
0.851 0.200 11 22221100 frameshift variant -/A delins
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: rs1555606959
rs1555606959
TCAP
1.000 0.120 17 39665391 frameshift variant -/G delins
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: rs1198364572
rs1198364572
TTN ; TTN-AS1
2 178671132 frameshift variant -/T delins
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: rs797045933
rs797045933
RYR1
19 38467665 inframe insertion -/TCCTAT delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
0.827 0.120 15 42387803 frameshift variant A/- 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: rs781565158
rs781565158
PYROXD1
0.851 0.120 12 21452130 missense variant A/G snv 4.7E-05 2.1E-05
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: rs797045730
rs797045730
MYH7 ; MHRT
14 23416071 missense variant A/G 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: rs1057518834
rs1057518834
DMD
X 32849737 frameshift variant C/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs746361190
rs746361190
CNTNAP1
0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797046047
rs797046047
TPM3
1.000 0.080 1 154170441 missense variant C/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs886044514
rs886044514
CLTA ; GNE
1.000 0.120 9 36249352 stop gained C/A snv 4.0E-06 7.0E-06
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: rs55960271
rs55960271
CLCN1
0.882 0.120 7 143351678 stop gained C/A;T snv 4.0E-06; 2.9E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045935
rs797045935
RYR1
19 38506860 stop gained C/A;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs879253979
rs879253979
DYNC1H1
0.925 0.120 14 101979951 missense variant C/G;T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
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: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/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: rs1556425596
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0