ClinVar Miner

List of variants in gene BRIP1 reported as likely benign for Fanconi anemia

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Total variants: 29
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HGVS dbSNP
NM_032043.2(BRIP1):c.*1263A>G rs73991940
NM_032043.2(BRIP1):c.*1374T>C rs59115933
NM_032043.2(BRIP1):c.*152G>T rs540229694
NM_032043.2(BRIP1):c.*158T>C rs1978111
NM_032043.2(BRIP1):c.*172G>C rs111898257
NM_032043.2(BRIP1):c.*1820C>T rs114037902
NM_032043.2(BRIP1):c.*1964T>C rs140267868
NM_032043.2(BRIP1):c.*2082_*2085delTGTC rs10601136
NM_032043.2(BRIP1):c.*2090G>C rs60657820
NM_032043.2(BRIP1):c.*2241T>C rs76889595
NM_032043.2(BRIP1):c.*2538G>A rs150080122
NM_032043.2(BRIP1):c.*280G>C rs189935192
NM_032043.2(BRIP1):c.*283delA rs531656835
NM_032043.2(BRIP1):c.*3114delT rs35235448
NM_032043.2(BRIP1):c.*3450T>C rs74859843
NM_032043.2(BRIP1):c.*3488A>T rs11079454
NM_032043.2(BRIP1):c.*3514T>G rs10744996
NM_032043.2(BRIP1):c.*4000T>C rs8077553
NM_032043.2(BRIP1):c.*483C>T rs7213430
NM_032043.2(BRIP1):c.*616A>G rs116292412
NM_032043.2(BRIP1):c.*729C>T rs137967725
NM_032043.2(BRIP1):c.-197C>A rs180948389
NM_032043.2(BRIP1):c.-205G>A rs2048718
NM_032043.2(BRIP1):c.-31+12G>A rs4988340
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val) rs111536363
NM_032043.2(BRIP1):c.2637A>G (p.Glu879=) rs4986765
NM_032043.2(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764
NM_032043.2(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763
NM_032043.2(BRIP1):c.918+15T>A rs117820198

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