Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553741321
TTN ; TTN-AS1
2 178633304 frameshift variant -/T delins 1
rs1554875409
BAG3
10 119651752 stop gained G/A snv 1
rs1555338080
MYH7
14 23427274 missense variant C/G snv 1
rs1559877046
TTN ; TTN-AS1
2 178621183 stop gained T/A;C snv 1
rs1561703922
DSP
6 7584830 frameshift variant ACAG/- delins 1
rs1564773559
BAG3
10 119669920 frameshift variant -/TGTGTAC delins 1
rs1565050320
CSRP3
11 19185040 missense variant C/G snv 1
rs1565053085
CSRP3
11 19192353 synonymous variant C/T snv 1
rs1565053147
CSRP3
11 19192403 missense variant T/A snv 1
rs199476310
TPM1
15 63057019 missense variant T/C snv 1
rs199476311
TPM1
15 63059667 missense variant G/A snv 1
rs199476401
MYPN
1.000 10 68121896 missense variant A/C;G snv 4.0E-06 1
rs200797552
TTN ; TTN-AS1
2 178578078 stop gained C/A;T snv 3.3E-04 1
rs202234172
TTN ; TTN-AS1
2 178689897 splice acceptor variant C/T snv 3.4E-04 4.7E-04 1
rs267607593
LMNA
1 156134964 missense variant T/C snv 1
rs368452607
TTN ; TTN-AS1
2 178588700 stop gained G/A;T snv 4.0E-06; 8.0E-06 1
rs377491278
MYH7
14 23427773 missense variant C/T snv 1.2E-05 1.4E-05 1
rs397515750
TAZ
X 154420948 stop gained C/T snv 1
rs397515939
MYBPC3
11 47339758 missense variant G/A;C snv 8.0E-06 1
rs397516122
MYH7
14 23427682 missense variant G/T snv 1
rs397516123
MYH7
14 23427675 missense variant G/A snv 1
rs397516224
MYH7
14 23432684 frameshift variant G/- delins 4.0E-06 1
rs397516252
MYH7 ; MHRT
14 23413832 missense variant G/C snv 1
rs397516253
MHRT ; MYH7
14 23413823 missense variant C/G;T snv 1.2E-05 1
rs397516352
TNNI3
19 55154115 missense variant A/G snv 1