Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060502881
FBXO11 ; MSH6
2 47805636 frameshift variant GAATT/- delins 2
rs1060502886
FBXO11 ; MSH6
2 47799798 frameshift variant TA/- del 2
rs1060502918
MSH6 ; FBXO11
2 47799991 frameshift variant G/- delins 2
rs1060503110
PMS2
7 5978679 stop gained A/C;T snv 2
rs1060503137
PMS2
7 5986900 frameshift variant TA/- delins 2
rs1060503735
PHF7 ; BAP1
1.000 3 52409716 frameshift variant A/- delins 2
rs1060503750
BAP1
1.000 3 52408473 splice donor variant C/A;T snv 2
rs1064793234
PMS2
7 5987185 frameshift variant CT/- del 4.0E-06 2
rs1064793471
BRCA2
1.000 13 32340834 frameshift variant A/- delins 2
rs1064793561
MSH2
2 47466710 frameshift variant ACTT/- delins 2
rs1064793952
RAD51L3-RFFL ; RAD51D
1.000 17 35119533 frameshift variant T/- del 2
rs1064794075
MSH6
2 47783495 splice donor variant TA/AG mnv 2
rs1064794155
MSH2
2 47412560 splice donor variant G/- delins 2
rs1064794384
MSH6 ; FBXO11
2 47806271 frameshift variant TA/- delins 2
rs1064795045
RAD51D ; RAD51L3-RFFL
1.000 17 35101326 frameshift variant CTCCCGC/- delins 2
rs1064795216
BRCA2
1.000 13 32340734 frameshift variant A/- del 2
rs1064795591
MSH6 ; FBXO11
2 47799916 stop gained G/A;T snv 4.0E-06; 4.0E-06 2
rs1085307902
BRCA1
1.000 17 43104187 stop gained G/A snv 2
rs1114167689
FBXO11 ; MSH6
2 47791043 stop gained C/G snv 2
rs1114167696
FBXO11 ; MSH6
2 47798791 frameshift variant A/- delins 2
rs1114167702
MSH6 ; FBXO11
2 47799554 stop gained CA/- delins 2
rs1114167705
MSH6 ; FBXO11
2 47803500 frameshift variant A/AA;TC delins 2
rs1114167715
FBXO11 ; MSH6
2 47799432 frameshift variant GGAACAGACTGAGA/AGC delins 2
rs1114167723
MSH6 ; FBXO11
2 47805617 splice acceptor variant G/C;T snv 2
rs1114167724
FBXO11 ; MSH6
2 47801047 stop gained G/T snv 2