ClinVar Miner

List of variants in gene BRIP1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571 0.00034
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr) rs367610893 0.00027
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_032043.3(BRIP1):c.380-5A>G rs587782131 0.00019
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser) rs150313156 0.00019
NM_032043.3(BRIP1):c.2564G>A (p.Arg855His) rs200894063 0.00012
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys) rs587780247 0.00009
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys) rs371185409 0.00007
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His) rs587782244 0.00005
NM_032043.3(BRIP1):c.1655T>C (p.Ile552Thr) rs369340666 0.00004
NM_032043.3(BRIP1):c.1652C>A (p.Ala551Glu) rs375246789 0.00003
NM_032043.3(BRIP1):c.2590G>A (p.Val864Ile) rs149529390 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.886G>C (p.Glu296Gln) rs876660125 0.00003
NM_032043.3(BRIP1):c.3296T>G (p.Leu1099Arg) rs772709195 0.00002
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu) rs587780831 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1208G>A (p.Arg403Gln) rs786202780 0.00001
NM_032043.3(BRIP1):c.1369G>C (p.Val457Leu) rs748221377 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.2802T>G (p.Phe934Leu) rs1259968679 0.00001
NM_032043.3(BRIP1):c.3038C>T (p.Thr1013Ile) rs1372474933 0.00001
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg) rs763162379 0.00001
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr) rs878855154 0.00001
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser) rs587782734 0.00001
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile) rs778480809 0.00001
NM_032043.3(BRIP1):c.3605A>G (p.Glu1202Gly) rs776010326 0.00001
NM_032043.3(BRIP1):c.1264C>G (p.Leu422Val)
NM_032043.3(BRIP1):c.1414G>C (p.Glu472Gln) rs1555605902
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile) rs864622345
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu) rs587781321
NM_032043.3(BRIP1):c.2120G>A (p.Arg707His) rs200313471
NM_032043.3(BRIP1):c.2144A>G (p.His715Arg) rs1253181575
NM_032043.3(BRIP1):c.2524C>T (p.Leu842Phe) rs786201802
NM_032043.3(BRIP1):c.256TGT[2] (p.Cys88del) rs587781388
NM_032043.3(BRIP1):c.3044A>G (p.Lys1015Arg) rs1006002613
NM_032043.3(BRIP1):c.3214A>G (p.Thr1072Ala) rs756074244
NM_032043.3(BRIP1):c.3346A>G (p.Thr1116Ala)
NM_032043.3(BRIP1):c.3367A>G (p.Thr1123Ala) rs754056526
NM_032043.3(BRIP1):c.3389T>C (p.Ile1130Thr) rs1057522432
NM_032043.3(BRIP1):c.3461G>C (p.Arg1154Thr) rs1057522433
NM_032043.3(BRIP1):c.3590G>A (p.Gly1197Glu) rs587781677
NM_032043.3(BRIP1):c.3625A>G (p.Ile1209Val) rs1603274780
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032043.3(BRIP1):c.3742T>C (p.Phe1248Leu) rs1567727102
NM_032043.3(BRIP1):c.479G>T (p.Arg160Ile) rs1330277587
NM_032043.3(BRIP1):c.623A>G (p.Gln208Arg)
NM_032043.3(BRIP1):c.758A>G (p.His253Arg) rs2078112284
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842

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