ClinVar Miner

List of variants in gene BRIP1 studied for Fanconi anemia

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.*2082_*2085del rs10601136 0.37829
NM_032043.3(BRIP1):c.*283del rs531656835 0.00584
NM_032043.3(BRIP1):c.-237dup rs112243287 0.00029
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032043.3(BRIP1):c.*339G>C rs886053212 0.00001
NM_032043.3(BRIP1):c.1641T>G (p.Asp547Glu) rs754414731 0.00001
NM_032043.3(BRIP1):c.*1048_*1050del rs564290244
NM_032043.3(BRIP1):c.*1255AG[1] rs886053209
NM_032043.3(BRIP1):c.*2811_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2812_*2815dup rs768910110
NM_032043.3(BRIP1):c.*2813_*2815A[4]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[5]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2813_*2815A[6]GAAA[1] rs1555571892
NM_032043.3(BRIP1):c.*2817_*2818insGAAAGA rs886053202
NM_032043.3(BRIP1):c.*2819_*2820insAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAA rs551338531
NM_032043.3(BRIP1):c.*2819_*2820insAAAAAAA rs551338531
NM_032043.3(BRIP1):c.*3114del rs35235448
NM_032043.3(BRIP1):c.*394CT[1] rs546666211
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641

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