Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555932231
CHEK2
22 28734452 frameshift variant -/G delins 1
rs1555932344
CHEK2
22 28734490 frameshift variant G/- delins 1
rs1555932518
CHEK2
22 28734589 frameshift variant T/- del 1
rs1555932735
CHEK2
22 28734632 frameshift variant CCTTG/- delins 1
rs1555932877
CHEK2
22 28734666 stop gained G/C snv 1
rs1569158075
CHEK2
22 28725126 splice acceptor variant T/C snv 1
rs587780183
CHEK2
22 28725062 frameshift variant A/- delins 4.0E-06 1
rs587780184
CHEK2
22 28725044 frameshift variant -/A delins 1
rs587780186
CHEK2
22 28724988 frameshift variant C/- del 1
rs587780192
CHEK2
0.925 0.080 22 28699929 missense variant C/G;T snv 4.4E-05; 4.0E-06 1
rs587781836
CHEK2
22 28695757 stop gained A/T snv 1
rs587782684
CHEK2
22 28687962 frameshift variant G/- delins 1
rs587782707
CHEK2
22 28689173 frameshift variant -/TC delins 1.4E-05 1
rs587782830
CHEK2
22 28725125 splice acceptor variant C/G;T snv 1
rs750616657
CHEK2
22 28719413 frameshift variant -/TGAT delins 1.8E-05; 1.3E-05 1
rs756250205
CHEK2
22 28689191 stop gained G/A;T snv 1.4E-05 1
rs757016287
CHEK2
22 28734702 frameshift variant ATCCGAC/- delins 4.1E-06 1
rs760502479
CHEK2
22 28696985 stop gained G/T snv 8.0E-06 1
rs764884641
CHEK2
22 28709999 splice donor variant TTAC/- delins 2.8E-05 2.1E-05 1
rs765664259
CHEK2
22 28695731 frameshift variant A/- delins 1
rs766416564
CHEK2
22 28734499 frameshift variant ATAGA/- delins 8.0E-06 1
rs767253467
CHEK2
22 28719449 stop gained G/A;C snv 1.3E-05 1
rs773955899
CHEK2
22 28719456 frameshift variant C/- del 8.7E-06 1
rs774175654
CHEK2
22 28689188 frameshift variant C/- del 1.4E-05 1
rs786201896
CHEK2
22 28711944 stop gained T/A;C snv 1