ClinVar Miner

List of variants in gene BRIP1 reported as benign for Fanconi anemia complementation group J

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_032043.3(BRIP1):c.*3514T>G rs10744996 0.68796
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_032043.3(BRIP1):c.*483C>T rs7213430 0.61289
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_032043.3(BRIP1):c.-205G>A rs2048718 0.42481
NM_032043.3(BRIP1):c.*2090G>C rs60657820 0.38290
NM_032043.3(BRIP1):c.*3488A>T rs11079454 0.33474
NM_032043.3(BRIP1):c.-31+12G>A rs4988340 0.23980
NM_032043.3(BRIP1):c.*2241T>C rs76889595 0.05966
NM_032043.3(BRIP1):c.*1374T>C rs59115933 0.03738
NM_032043.3(BRIP1):c.*4000T>C rs8077553 0.03559
NM_032043.3(BRIP1):c.*172G>C rs111898257 0.01099
NM_032043.3(BRIP1):c.*1820C>T rs114037902 0.00997
NM_032043.3(BRIP1):c.*2538G>A rs150080122 0.00610
NM_032043.3(BRIP1):c.206-21T>C rs2048717 0.00589
NM_032043.3(BRIP1):c.*280G>C rs189935192 0.00585
NM_032043.3(BRIP1):c.1141-94G>T rs114901675 0.00573
NM_032043.3(BRIP1):c.*616A>G rs116292412 0.00570
NM_032043.3(BRIP1):c.-197C>A rs180948389 0.00518
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_032043.3(BRIP1):c.*1263A>G rs73991940 0.00355
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_032043.3(BRIP1):c.*3450T>C rs74859843 0.00088
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.*158T>C rs1978111

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