Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060502698
CHEK2
22 28689216 splice acceptor variant C/T snv 7.0E-06 1
rs1064795959
CHEK2
22 28734440 frameshift variant A/- del 1
rs1233699096
CHEK2
22 28703505 stop gained A/G;T snv 7.0E-06 1
rs1248967885
CHEK2
22 28695731 stop gained A/C;G snv 4.0E-06 1
rs1250779080
CHEK2
22 28719481 frameshift variant A/- delins 1.4E-05 1
rs1293617484
CHEK2
22 28703568 splice acceptor variant TAAGAAGAGGGGG/- del 1
rs1298667185
CHEK2
22 28712018 splice acceptor variant C/T snv 1
rs1390889028
CHEK2
22 28703516 frameshift variant TAATA/- delins 7.0E-06 1
rs1474786480
CHEK2
22 28710034 frameshift variant CT/- delins 4.0E-06 1
rs1555912060
CHEK2
22 28689194 frameshift variant AC/- del 1
rs1555913078
CHEK2
22 28694042 frameshift variant G/- delins 1
rs1555913410
CHEK2
22 28695134 frameshift variant T/- del 1
rs1555913464
CHEK2
22 28695179 frameshift variant G/- delins 1
rs1555913672
CHEK2
22 28695736 frameshift variant ACAGCACGGTTATACCCAGCAGTCC/- delins 1
rs1555913894
CHEK2
22 28695852 frameshift variant -/G delins 1
rs1555915409
CHEK2
22 28699872 frameshift variant T/- delins 1
rs1555915433
CHEK2
22 28699885 stop gained C/A snv 1
rs1555916968
CHEK2
22 28703534 frameshift variant A/- del 1
rs1555917031
CHEK2
22 28703561 stop gained G/A;T snv 1
rs1555920257
CHEK2
22 28710061 splice acceptor variant T/C snv 1
rs1555921011
CHEK2
22 28711908 splice donor variant C/T snv 1
rs1555921327
CHEK2
22 28712007 frameshift variant -/GGAG ins 1
rs1555926975
CHEK2
22 28725097 frameshift variant ATGTAAGAGTTTTTAGGACCCA/- delins 1
rs1555927291
CHEK2
22 28725315 stop gained G/T snv 1
rs1555932231
CHEK2
22 28734452 frameshift variant -/G delins 1