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: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/T snv
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: rs199564797
rs199564797
SELENON
0.742 0.360 1 25809150 missense variant G/A snv 1.2E-05 1.4E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs745886248
rs745886248
SELENON
0.742 0.360 1 25811710 missense variant G/A;C;T snv 4.3E-06; 4.3E-06; 4.3E-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: rs1057518851
rs1057518851
TTN ; TTN-AS1
2 178571565 stop gained C/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: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
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: rs746721983
rs746721983
TTN ; TTN-AS1
2 178706629 stop gained G/A snv 2.8E-05 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs757082154
rs757082154
TTN ; TTN-AS1
1.000 0.120 2 178527491 stop gained G/A snv 1.2E-05
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: rs797046060
rs797046060
TTN ; TTN-AS1
2 178719588 frameshift variant GC/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797046064
rs797046064
TTN ; TTN-AS1
2 178634010 frameshift variant CAAA/- delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins
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: rs1563221666
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T snv
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: 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: 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: 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: rs1057518855
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins
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: rs375014127
rs375014127
ANO5
1.000 0.120 11 22262162 missense variant G/A;T snv 4.0E-06; 6.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0