Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs992189342
GCOM1 ; MYZAP
15 57618106 stop gained C/A;T snv 7.0E-06 1
rs974671846
TTN ; TTN-AS1
0.925 0.160 2 178592211 stop gained C/T snv 7.0E-06 3
rs886040968
SLC12A2
1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 3
rs879255521
DSP
6 7580193 stop gained C/T snv 4.0E-06 1
rs876658027
TNNT2
1 201365247 missense variant GA/AC mnv 1
rs876657767
CSRP3
11 19186276 missense variant C/G;T snv 1
rs876657704
MYBPC3
11 47337489 frameshift variant C/- del 1
rs876657674
VCL
10 74074789 frameshift variant -/G delins 1
rs876657673
TTN-AS1 ; TTN
2 178739618 frameshift variant -/A delins 1
rs876657672
TTN ; TTN-AS1
2 178537244 splice acceptor variant C/T snv 1
rs876657671
TTN-AS1 ; TTN
2 178543876 stop gained G/A snv 1
rs876657670
TTN ; TTN-AS1
2 178560622 stop gained C/A;T snv 2
rs876657669
TTN-AS1 ; TTN
2 178573299 frameshift variant -/T delins 1
rs876657668
TTN-AS1 ; TTN
2 178585348 splice acceptor variant C/G snv 1
rs876657667
TTN-AS1 ; TTN
2 178586809 splice acceptor variant T/C snv 1
rs876657666
TTN-AS1 ; TTN
0.925 0.160 2 178588815 frameshift variant -/G delins 3
rs876657665
TTN-AS1 ; TTN
2 178614754 splice acceptor variant C/G snv 1
rs876657664
TTN ; TTN-AS1
2 178636088 frameshift variant G/- delins 4.0E-06 1
rs876657663
TTN ; TTN-AS1
2 178759040 splice donor variant CGTGTAA/- delins 1
rs876657662
TPM1
15 63060872 stop gained G/A snv 1
rs876657650
LMNA
1 156130736 frameshift variant A/- del 1
rs876657634
BAG3
0.925 0.080 10 119672477 stop gained C/T snv 3
rs869312122
TTN ; TTN-AS1
1.000 0.120 2 178535516 frameshift variant -/A ins 2
rs869312121
TTN ; TTN-AS1
2 178546476 stop gained G/A snv 7.0E-06 1
rs869312120
TTN ; TTN-AS1
2 178557372 frameshift variant AAGT/- del 1