Gene: BRCA2 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs276174913
rs276174913
BRCA2
1 1.000 13 32379431 stop gained C/T snv 4.0E-06 0.700 1.000 4 2008 2015
dbSNP: rs397507320
rs397507320
BRCA2
1 1.000 13 32325155 stop gained T/A snv 0.700 1.000 3 2008 2016
dbSNP: rs80359080
rs80359080
BRCA2
1 1.000 13 32370433 stop gained G/A;C;T snv 0.700 1.000 3 2008 2015
dbSNP: rs81002883
rs81002883
BRCA2
1 1.000 13 32380146 splice donor variant G/A;C snv 0.700 1.000 3 2003 2013
dbSNP: rs397508009
rs397508009
BRCA2
1 1.000 13 32332358 stop gained G/T snv 7.0E-06 0.700 1.000 2 2011 2012
dbSNP: rs80359564
rs80359564
BRCA2
1 1.000 13 32340552 frameshift variant TT/-;T delins 0.700 1.000 2 1997 1998
dbSNP: rs80358631
rs80358631
BRCA2
1 1.000 13 32338226 stop gained C/T snv 5.2E-06 0.700 1.000 1 2008 2008
dbSNP: rs81002886
rs81002886
BRCA2
1 1.000 13 32376668 splice acceptor variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs878853287
rs878853287
BRCA2
1 1.000 13 32330917 splice acceptor variant A/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs879255310
rs879255310
BRCA2
1 1.000 13 32341169 frameshift variant GA/- delins 0.700 1.000 1 2014 2014
dbSNP: rs1057517595
rs1057517595
BRCA2
1 1.000 13 32339841 frameshift variant GT/- delins 0.700 0
dbSNP: rs1057517636
rs1057517636
BRCA2
1 1.000 13 32338829 stop gained A/T snv 0.700 0
dbSNP: rs1057517865
rs1057517865
BRCA2
1 1.000 13 32371025 stop gained A/T snv 0.700 0
dbSNP: rs1057520636
rs1057520636
BRCA2
1 1.000 13 32338581 stop gained T/A snv 0.700 0
dbSNP: rs1060499566
rs1060499566
BRCA2
1 1.000 13 32316421 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1060499833
rs1060499833
BRCA2
1 1.000 13 32339338 stop gained T/G snv 0.700 0
dbSNP: rs1060502466
rs1060502466
BRCA2
1 1.000 13 32336837 missense variant T/C snv 0.700 0
dbSNP: rs1064793061
rs1064793061
BRCA2
1 1.000 13 32319230 frameshift variant T/- del 0.700 0
dbSNP: rs1064793063
rs1064793063
BRCA2
1 1.000 13 32337130 frameshift variant T/- del 0.700 0
dbSNP: rs1064793064
rs1064793064
BRCA2
1 1.000 13 32338000 frameshift variant GTT/TA delins 0.700 0
dbSNP: rs1064793067
rs1064793067
BRCA2
1 1.000 13 32355017 frameshift variant AGAAA/- delins 0.700 0
dbSNP: rs1064793413
rs1064793413
BRCA2
1 1.000 13 32338903 frameshift variant CA/- del 0.700 0
dbSNP: rs1064793467
rs1064793467
BRCA2
1 1.000 13 32336691 frameshift variant T/- del 0.700 0
dbSNP: rs1064793572
rs1064793572
BRCA2
1 1.000 13 32332796 frameshift variant ACTT/- delins 0.700 0
dbSNP: rs1064793627
rs1064793627
BRCA2
1 1.000 13 32336545 frameshift variant AAGAG/- delins 0.700 0