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: 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: 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: rs1555420508
rs1555420508
CAPN3 ; LOC105370794
15 42387891 splice region variant G/A 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: rs370634440
rs370634440
RYR1
19 38463499 missense variant G/A;T snv 1.7E-04; 8.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
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: rs774521989
rs774521989
COL6A2
21 46132125 missense variant C/T snv 1.6E-05 4.9E-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: 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
dbSNP: rs797045932
rs797045932
RYR1
19 38460515 frameshift variant G/- delins 2.8E-05
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: rs797045934
rs797045934
RYR1
19 38467813 splice donor variant G/A;T snv 4.0E-06
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: rs797046060
rs797046060
TTN ; TTN-AS1
2 178719588 frameshift variant GC/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0