Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs730880093
DSP
6 7583655 frameshift variant A/- del 1
rs779488376
VCL
10 74095825 frameshift variant A/- del 4.0E-05 7.0E-06 1
rs869025399
DSP
6 7582986 frameshift variant A/- delins 1
rs869312058
TTN-AS1 ; TTN
2 178567625 frameshift variant A/- del 1
rs869312071
TTN ; TTN-AS1
2 178612278 frameshift variant A/- delins 1
rs869312111
TTN-AS1 ; TTN
2 178592653 frameshift variant A/- del 1
rs876657650
LMNA
1 156130736 frameshift variant A/- del 1
rs397516454
TNNT2
1 201365610 missense variant A/C snv 1
rs727504646
TTN-AS1 ; TTN
2 178551055 stop gained A/C snv 1
rs869312046
TTN ; TTN-AS1
2 178620798 stop gained A/C snv 1
rs199476401
MYPN
1.000 10 68121896 missense variant A/C;G snv 4.0E-06 1
rs397517620
TTN-AS1 ; TTN
2 178604051 stop gained A/C;G snv 1
rs58917027
LMNA
1.000 0.120 1 156130708 missense variant A/C;G snv 1
rs869312105
TTN ; TTN-AS1
2 178635489 stop gained A/C;G snv 1
rs121913642
MYH7
0.925 0.080 14 23427879 missense variant A/G snv 3
rs137853197
NEXN
0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04 3
rs397516028
MYBPC3
1.000 0.080 11 47332594 missense variant A/G snv 3
rs397517071
ACTC1 ; LOC101928174
1.000 0.040 15 34792092 missense variant A/G snv 2
rs727504379
ACTC1 ; LOC101928174
1.000 0.040 15 34791238 missense variant A/G snv 2
rs869312054
TTN ; TTN-AS1
2 178593566 splice donor variant A/G snv 1.4E-05 2
rs397516352
TNNI3
19 55154115 missense variant A/G snv 1
rs397516370
TPM1
15 63057085 missense variant A/G snv 1
rs727503738
VCL
10 74095654 splice acceptor variant A/G snv 1
rs267607155
TTN
0.925 0.040 2 178782980 missense variant A/G;T snv 2
rs267607483
DES
1.000 0.160 2 219420349 splice region variant A/G;T snv 2