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: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
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: rs545623839
rs545623839
MYH2 ; MYHAS
1.000 0.160 17 10533349 stop gained G/A snv 2.4E-05
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: 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: 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: 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: 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: rs797046047
rs797046047
TPM3
1.000 0.080 1 154170441 missense variant C/A 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: rs1057518905
rs1057518905
DPM3
1 155140104 missense variant A/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: 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: rs878854378
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- 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: 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: rs797046064
rs797046064
TTN ; TTN-AS1
2 178634010 frameshift variant CAAA/- 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: 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: rs797046060
rs797046060
TTN ; TTN-AS1
2 178719588 frameshift variant GC/T delins
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: rs1563221666
rs1563221666
SFTPC
0.882 0.120 8 22162694 missense variant C/T 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: 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
dbSNP: rs1057518855
rs1057518855
ANO5
11 22270443 splice donor variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0