Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs794728597
LMNA
1 156130624 inframe deletion AAG/- delins 1
rs876657650
LMNA
1 156130736 frameshift variant A/- del 1
rs756433029
LOC101927055 ; TTN-AS1 ; TTN
2 178777235 frameshift variant TTTCA/- delins 8.0E-06 1.4E-05 1
rs145734640
MHRT ; MYH7
0.925 0.080 14 23415096 missense variant G/A;C;T snv 1.6E-05; 1.6E-05; 4.0E-06 1
rs397516253
MHRT ; MYH7
14 23413823 missense variant C/G;T snv 1.2E-05 1
rs397515939
MYBPC3
11 47339758 missense variant G/A;C snv 8.0E-06 1
rs876657704
MYBPC3
11 47337489 frameshift variant C/- del 1
rs1555338080
MYH7
14 23427274 missense variant C/G snv 1
rs377491278
MYH7
14 23427773 missense variant C/T snv 1.2E-05 1.4E-05 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
rs397516258
MYH7
1.000 0.040 14 23431798 missense variant A/G;T snv 1
rs727503254
MYH7
14 23424770 missense variant G/A;T snv 1
rs727503258
MYH7
14 23425358 missense variant G/A;C snv 4.0E-06 1
rs727503265
MYH7
14 23427889 missense variant C/T snv 1
rs397516252
MYH7 ; MHRT
14 23413832 missense variant G/C snv 1
rs869025483
MYH7 ; MHRT
14 23413805 protein altering variant GACT/A delins 1
rs199476401
MYPN
1.000 10 68121896 missense variant A/C;G snv 4.0E-06 1
rs563762318
RBM20
10 110831154 missense variant G/A snv 2.8E-04 6.3E-05 1
rs727504763
RBM20
10 110821880 frameshift variant CC/G delins 1
rs727504859
RBM20
10 110821365 missense variant G/A snv 1
rs199473153
SCN5A
0.882 0.120 3 38597737 stop gained C/A;T snv 4.0E-06 1
rs749838192
SCO2 ; NCAPH2
22 50524395 frameshift variant -/TGAGTCACTGCTGCATGCT ins 5.8E-04; 4.2E-06 8.9E-04 1
rs397515750
TAZ
X 154420948 stop gained C/T snv 1