Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057516198
FLNA
1.000 0.080 X 154359008 stop gained G/A snv 1
rs1060500717
FLNA
1.000 0.080 X 154352226 stop gained G/A;C snv 1
rs112363874
FLNA
1.000 0.080 X 154352449 splice acceptor variant T/A;G snv 1
rs137853311
FLNA
1.000 0.080 X 154364582 missense variant G/A snv 1.1E-05 1
rs137853313
FLNA
1.000 0.080 X 154371130 missense variant G/C snv 1
rs137853315
FLNA
0.882 0.200 X 154368081 missense variant G/A snv 1
rs1557180226
FLNA
1.000 0.080 X 154371164 start lost T/C snv 1
rs1569551449
FLNA
1.000 0.080 X 154352019 stop gained C/A snv 1
rs1569551736
FLNA
1.000 0.080 X 154362043 frameshift variant C/- del 1
rs28935169
FLNA
1.000 0.080 X 154371001 missense variant T/A snv 1
rs781910090
FLNA
1.000 0.080 X 154351689 stop gained G/A;C snv 1.7E-05 1
rs782426283
FLNA
1.000 0.080 X 154359317 missense variant G/A snv 3.6E-04 6.6E-05 1
rs80338841
FLNA
1.000 0.080 X 154364625 synonymous variant G/A snv 1
rs863223295
FLNA
1.000 0.080 X 154367639 splice donor variant A/G snv 1
rs863223296
FLNA
1.000 0.080 X 154370872 splice donor variant C/T snv 1
rs863223297
FLNA
1.000 0.080 X 154370955 frameshift variant GGCCG/- delins 1
rs863223299
FLNA
1.000 0.080 X 154359402 frameshift variant C/- del 1
rs137853310
FLNA
0.925 0.080 X 154367920 stop gained G/A snv 2
rs1557175424
FLNA
0.925 0.080 X 154350030 splice donor variant C/T snv 2
rs398122812
LOC105373386 ; FLNA
0.925 0.080 X 154348897 stop gained C/T snv 2
rs1060500716
FLNA
0.851 0.120 X 154360127 missense variant G/A snv 4
rs1060500718
FLNA
0.851 0.120 X 154353329 frameshift variant AG/- del 4
rs1557176315
FLNA
0.851 0.120 X 154353914 splice donor variant C/G snv 4
rs1557177086
FLNA
0.851 0.120 X 154357527 frameshift variant GTGTAGCGACCTG/- delins 4
rs1557177279
FLNA
0.851 0.120 X 154358440 splice donor variant TTACCTCC/- delins 4