Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1028347439
BRIP1
17 61801267 stop gained G/A snv 1
rs1064795352
BRIP1
17 61715995 stop gained C/T snv 1
rs1400202829
BRIP1
17 61776456 frameshift variant CAAAA/- delins 1
rs1437158047
BRIP1
17 61857057 splice donor variant C/G;T snv 4.0E-06 1
rs1555572799
BRIP1
17 61683867 frameshift variant ACTGTCA/GAG delins 1
rs1555573386
BRIP1
17 61686004 frameshift variant A/- del 1
rs1555574711
BRIP1
17 61693427 splice donor variant -/A delins 1
rs1555574788
BRIP1
17 61693480 frameshift variant AG/- delins 1
rs1555574796
BRIP1
17 61693486 frameshift variant CC/-;CCC delins 1
rs1555590521
BRIP1
17 61743111 frameshift variant A/- delins 1
rs1555591308
BRIP1
17 61744435 frameshift variant TCTC/- delins 1
rs1555591361
BRIP1
17 61744471 stop gained G/A snv 1
rs1555601064
BRIP1
17 61776468 frameshift variant C/- delins 1
rs1555601094
BRIP1
17 61776483 frameshift variant A/GG delins 1
rs1555601203
BRIP1
17 61776558 stop gained C/T snv 1
rs1555601204
BRIP1
17 61776563 splice acceptor variant C/T snv 1
rs1555602154
BRIP1
17 61780306 frameshift variant T/- del 1
rs1555602638
BRIP1
17 61780984 frameshift variant -/TTTAT delins 1
rs1555603622
BRIP1
17 61784414 frameshift variant -/A delins 1
rs1555605866
BRIP1
17 61793609 frameshift variant A/- delins 1
rs1555607070
BRIP1
17 61799146 stop gained T/A;C snv 1
rs1555607759
BRIP1
17 61801408 frameshift variant -/T ins 1
rs1555609121
BRIP1
17 61808467 frameshift variant -/T delins 1
rs1555609214
BRIP1
17 61808577 frameshift variant -/T delins 1
rs1555609298
BRIP1
17 61808676 frameshift variant -/A delins 1